Sökresultat - "Pigmentation"

Xenopus as a model system for studying pigmentation and pigmentary disorders.

El Mir J; University of Bordeaux, Inserm, BRIC, UMR 1312, Bordeaux, France., Nasrallah A; University of Bordeaux, Inserm, BRIC, UMR 1312, Bordeaux, France., Thézé N; University of Bordeaux, Inserm, BRIC, UMR 1312, Bordeaux, France., Cario M; University of Bordeaux, Inserm, BRIC, UMR 1312, Bordeaux, France.; Aquiderm, University of Bordeaux, Bordeaux, France., Fayyad-Kazan H; Laboratory of Cancer Biology and Molecular Immunology, Lebanese University, Hadath, Lebanon., Thiébaud P; University of Bordeaux, Inserm, BRIC, UMR 1312, Bordeaux, France., Rezvani HR; University of Bordeaux, Inserm, BRIC, UMR 1312, Bordeaux, France.; Aquiderm, University of Bordeaux, Bordeaux, France.

Journal Article; Review; Research Support, Non-U.S. Gov't , 2025

ROS and calcium signaling are critical determinant of skin pigmentation.

Ahuja K; Laboratory of Calciomics and Systemic Pathophysiology (LCSP), Regional Centre for Biotechnology (RCB), Faridabad-121001, Delhi-NCR, India., Raju S; Laboratory of Calciomics and Systemic Pathophysiology (LCSP), Regional Centre for Biotechnology (RCB), Faridabad-121001, Delhi-NCR, India., Dahiya S; Laboratory of Calciomics and Systemic Pathophysiology (LCSP), Regional Centre for Biotechnology (RCB), Faridabad-121001, Delhi-NCR, India., Motiani RK; Laboratory of Calciomics and Systemic Pathophysiology (LCSP), Regional Centre for Biotechnology (RCB), Faridabad-121001, Delhi-NCR, India. Electronic address: rajender.motiani@rcb.res.in.

Journal Article; Review , 2025

First description of leucism in the deep-sea angular rough shark (Oxynotus centrina) and the first documented pigment disorder in family Oxynotidae Gill, 1912.

Gajić AA; Sharklab ADRIA: Center for Marine and Freshwater Biology, Vlorë, Albania., de Loose E; Sharklab ADRIA: Center for Marine and Freshwater Biology, Vlorë, Albania.; IMBRSea Programme, Ghent University, Ghent, Belgium., Martin AG; Sharklab ADRIA: Center for Marine and Freshwater Biology, Vlorë, Albania.; IMBRSea Programme, Ghent University, Ghent, Belgium., Neuman E; Sharklab ADRIA: Center for Marine and Freshwater Biology, Vlorë, Albania., Karalić E; Sharklab ADRIA: Center for Marine and Freshwater Biology, Vlorë, Albania.

Journal Article , 2025

Common Ancestry of the Id Locus: Chromosomal Rearrangement and Polygenic Possibilities.

Sharma A; Computational Evolutionary Genomics Lab, Department of Biological Sciences, IISER Bhopal, Bhauri, Madhya Pradesh, India., Vijay N; Computational Evolutionary Genomics Lab, Department of Biological Sciences, IISER Bhopal, Bhauri, Madhya Pradesh, India. nagarjun@iiserb.ac.in.

Journal Article , 2025

Sunscreens in pigmentary disorders: time to revise the message.

Mun SJ; School of Medicine and Psychology, Australian National University, Canberra, ACT, Australia. Jenny.Mun@anu.edu.au., Lee V; School of Medicine, Western Sydney University, Campbelltown, NSW, Australia., Gupta M; Department of Dermatology, Liverpool Hospital, The Skin Hospital, Western Sydney University, The University of New South Wales, Liverpool, NSW, Australia.

Journal Article , 2025

Deciphering the role of skin aging in pigmentary disorders.

Yang Y; Department of Dermatology, Huashan Hospital, Fudan University, No.12 Wulumuqi Zhong Road, Shanghai 200040, PR China., Wu Y; Department of Dermatology, Huashan Hospital, Fudan University, No.12 Wulumuqi Zhong Road, Shanghai 200040, PR China., Xiang L; Department of Dermatology, Huashan Hospital, Fudan University, No.12 Wulumuqi Zhong Road, Shanghai 200040, PR China., Picardo M; Istituto Dermopatico Immacolata, IDI-RCCS, Rome, Italy. Electronic address: M.Picardo@idi.it., Zhang C; Department of Dermatology, Huashan Hospital, Fudan University, No.12 Wulumuqi Zhong Road, Shanghai 200040, PR China. Electronic address: e3dangdang@hotmail.com.

Journal Article; Review , 2025

Barramundi (Lates calcarifer) rare coloration patterns: a multiomics approach to understand the "panda" phenotype.

Marcoli R; ARC Research Hub for Supercharging Tropical Aquaculture through Genetic Solutions, James Cook University, Townsville, Queensland, Australia., Jones DB; ARC Research Hub for Supercharging Tropical Aquaculture through Genetic Solutions, James Cook University, Townsville, Queensland, Australia., Massault C; ARC Research Hub for Supercharging Tropical Aquaculture through Genetic Solutions, James Cook University, Townsville, Queensland, Australia., Harrison PJ; ARC Research Hub for Supercharging Tropical Aquaculture through Genetic Solutions, James Cook University, Townsville, Queensland, Australia.; Mainstream Aquaculture Group Pty Ltd, Werribee, Victoria, Australia., Cate HS; ARC Research Hub for Supercharging Tropical Aquaculture through Genetic Solutions, James Cook University, Townsville, Queensland, Australia.; Mainstream Aquaculture Group Pty Ltd, Werribee, Victoria, Australia., Jerry DR; ARC Research Hub for Supercharging Tropical Aquaculture through Genetic Solutions, James Cook University, Townsville, Queensland, Australia.; Tropical Futures Institute, James Cook University, Singapore, Singapore.

Journal Article , 2024

Distinct melanocyte subpopulations defined by stochastic expression of proliferation or maturation programs enable a rapid and sustainable pigmentation response.

Aggarwal A; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Nasreen A; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Sharma B; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Sahoo S; Department of Bioengineering, Indian Institute of Science, Bangalore, India., Aswin K; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Faruq M; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Pandey R; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India., Jolly MK; Department of Bioengineering, Indian Institute of Science, Bangalore, India., Singh A; Electrical and Computer Engineering, University of Delaware, Newark, Delaware, United States of America.; Biomedical Engineering, University of Delaware, Newark, Delaware, United States of America., Gokhale RS; National Institute of Immunology, New Delhi, India.; Indian Institute of Science Education and Research Pune, Pune, India., Natarajan VT; CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.

Journal Article , 2024

Editorial: Color change: neural and hormonal control of pigmentation.

Visconti MA; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

Editorial; Introductory Journal Article , 2024

Clinicopathologic correlation of dermatologic diseases in patients with darker pigmentation.

Tripathy S; McGovern School of Medicine, The University of Texas Health Sciences, Houston, TX, US., Warbasse E; Department of Dermatology, University of South Florida, Tampa, FL, US., Ronen S; Department of Pathology, Cleveland Clinic, Cleveland, OH, US., Al-Rohil R; Department of Dermatology, Duke University Hospital, Durham, NC, US.; Department of Pathology, Duke University Hospital, Durham, NC, US., Cohen GF; Department of Dermatology, University of South Florida, Tampa, FL, US., Chen WS; Department of Dermatology, University of South Florida, Tampa, FL, US., Patel AB; McGovern School of Medicine, The University of Texas Health Sciences, Houston, TX, US.; Department of Dermatology, University of Texas MD Anderson Cancer Center, Houston, TX, US.

Journal Article; Review , 2024

A comparative study of an advanced skin imaging system in diagnosing facial pigmentary and inflammatory conditions.

Huang YW; Department of Dermatology, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan.; Vitiligo Clinic and Pigment Research Center, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan.; College of Medicine, Chang Gung University, Taoyuan, Taiwan., Arkesteijn W; Sylton, InnoFaith Beauty Science, Son, The Netherlands., Lai YJ; Department of Dermatology, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan., Ng CY; Department of Dermatology, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan. mdcharlene@gmail.com.; Vitiligo Clinic and Pigment Research Center, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan. mdcharlene@gmail.com.; College of Medicine, Chang Gung University, Taoyuan, Taiwan. mdcharlene@gmail.com.; Department of Dermatology and Aesthetic Medicine Center, Jen Ai Hospital, Taichung, Taiwan. mdcharlene@gmail.com.

Journal Article; Comparative Study , 2024

Identification of pigmentation genes in skin, muscle and tail of a Thai-flag variety of Siamese fighting fish Betta splendens.

Tang S; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand., Janpoom S; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand., Prasertlux S; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand., Rongmung P; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand., Ittarat W; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand., Ratdee O; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand., Khamnamtong B; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand., Klinbunga S; Aquatic Molecular Genetics and Biotechnology Research Team, National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Khlong Nueng, Khlong Luang, Pathum Thani 12120, Thailand. Electronic address: sirawut@biotec.or.th.

Journal Article , 2024

Melanocyte colonization and pigmentation of breast carcinoma: A case report.

Khazaeli M; Department of Pathology, University at Buffalo, Buffalo, New York, USA., Maruthi VK; Department of Pathology, University at Buffalo, Buffalo, New York, USA., See S; Department of Dermatology, Section of Dermatopathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Ondracek T; Department of Pathology, University at Buffalo, Buffalo, New York, USA., Gerami P; Department of Dermatology, Section of Dermatopathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Case Reports; Journal Article , 2024

Australian Sunscreens: The Price of Protection for Skin of Colour With Pigmentary Disorders.

Hang X; Queensland Institute of Medical Research Berghofer, Brisbane, Queensland, Australia., Lim DS; Cutis Clinic, Brisbane, Queensland, Australia.

Journal Article; Review , 2025

Microneedles: A novel clinical technology for evaluating skin characteristics.

Kim SH; Cutis Biomedical Research Center Co. Ltd., Seoul, Republic of Korea., Kim JH; Cutis Biomedical Research Center Co. Ltd., Seoul, Republic of Korea., Choi YM; Cutis Biomedical Research Center Co. Ltd., Seoul, Republic of Korea., Seo SM; Cutis Biomedical Research Center Co. Ltd., Seoul, Republic of Korea., Jang EY; Cutis Biomedical Research Center Co. Ltd., Seoul, Republic of Korea., Lee SJ; Cutis Biomedical Research Center Co. Ltd., Seoul, Republic of Korea., Cho S; Yonsei BB Skin Clinic, Seoul, Republic of Korea., Jeong DH; Raphas Co. Ltd., Seoul, Republic of Korea., Lee KH; Cutis Biomedical Research Center Co. Ltd., Seoul, Republic of Korea.

Journal Article , 2024

The inhibition of VDAC1 oligomerization promotes pigmentation through the CaMK-CRTCs/CREB-MITF pathway.

Lv J; School of Pharmacy, Changzhou University, Changzhou, 213000, China; Department of Dermatology, The First People's Hospital of Changzhou, The Third Affiliated Hospital of Soochow University, Changzhou, 213000, China., Zhang X; School of Pharmacy, Changzhou University, Changzhou, 213000, China., An X; Yunnan Characteristic Plant Extraction Laboratory, Yunnan Yunke Characteristic Plant Extraction Laboratory Co., Ltd., Kunming, 650106, China; Yunnan Botanee Bio-technology Group Co., Ltd., Kunming, 650106, China., Cao Y; Department of Dermatology, The Affiliated Changzhou No.2 People's Hospital of Nanjing Medical University, Changzhou, 213000, China., Meng D; School of Pharmacy, Changzhou University, Changzhou, 213000, China., Zou K; School of Pharmacy, Changzhou University, Changzhou, 213000, China., Gao R; Department of Dermatology, The First People's Hospital of Changzhou, The Third Affiliated Hospital of Soochow University, Changzhou, 213000, China., Zhang R; Department of Dermatology, The First People's Hospital of Changzhou, The Third Affiliated Hospital of Soochow University, Changzhou, 213000, China. Electronic address: zhangruzhi628@163.com.

Journal Article; Research Support, Non-U.S. Gov't , 2024

Molecular basis governing diapause and pigmentation in the hawthorn spider mite, Amphitetranychus viennensis.

Yang J; College of Plant Protection, Shanxi Key Laboratory of Integrated Pest Management in Agriculture, Shanxi Agricultural University, Taiyuan, Shanxi, China. jingyang2021@sxau.edu.cn., Duan Y; College of Plant Protection, Shanxi Key Laboratory of Integrated Pest Management in Agriculture, Shanxi Agricultural University, Taiyuan, Shanxi, China., Wang Y; College of Plant Protection, Shanxi Key Laboratory of Integrated Pest Management in Agriculture, Shanxi Agricultural University, Taiyuan, Shanxi, China., Zhang Y; College of Plant Protection, Shanxi Key Laboratory of Integrated Pest Management in Agriculture, Shanxi Agricultural University, Taiyuan, Shanxi, China., Liu M; College of Plant Protection, Shanxi Key Laboratory of Integrated Pest Management in Agriculture, Shanxi Agricultural University, Taiyuan, Shanxi, China., Zhang Z; College of Plant Protection, Shanxi Key Laboratory of Integrated Pest Management in Agriculture, Shanxi Agricultural University, Taiyuan, Shanxi, China., Zhou X; Department of Entomology, School of Integrative Biology, College of Liberal Arts & Sciences, University of Illinois Urbana-Champaign, Urbana, IL, 61801, USA. xgzhou@illinois.edu., Ren M; College of Plant Protection, Shanxi Key Laboratory of Integrated Pest Management in Agriculture, Shanxi Agricultural University, Taiyuan, Shanxi, China. renmeifeng@sxau.edu.cn.

Journal Article , 2025

Spatial and Temporal Regulation of Flower Coloration in Cymbidium lowianum.

Dong XM; Key Laboratory of Economic Plants and Biotechnology, Kunming Institute of Botany, Chinese Academy of Sciences, Kunming, Yunnan, China.; Yunnan Key Laboratory for Wild Plant Resources, Kunming, Yunnan, China., Zhang W; Key Laboratory of Economic Plants and Biotechnology, Kunming Institute of Botany, Chinese Academy of Sciences, Kunming, Yunnan, China.; Yunnan Key Laboratory for Wild Plant Resources, Kunming, Yunnan, China., Tu M; Key Laboratory of Economic Plants and Biotechnology, Kunming Institute of Botany, Chinese Academy of Sciences, Kunming, Yunnan, China.; Yunnan Key Laboratory for Wild Plant Resources, Kunming, Yunnan, China.; University of Chinese Academy of Sciences, Beijing, China., Zhang SB; Key Laboratory of Economic Plants and Biotechnology, Kunming Institute of Botany, Chinese Academy of Sciences, Kunming, Yunnan, China.; Yunnan Key Laboratory for Wild Plant Resources, Kunming, Yunnan, China.

Journal Article , 2025

Metabolomic and transcriptomic analyses provide insights into the role of MiMYB114 and MiMYC2 in the MeJA-induced regulatory network for mango pericarp coloration.

Wang X; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China., You Y; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China., Wang J; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China., Zhang Y; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China., Wang T; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China., Gui C; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China., Zhang H; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China. Electronic address: hpzhang@njau.edu.cn., Gu C; Sanya Institute of Nanjing Agricultural University, State Key Laboratory of Crop Genetics & Germplasm Enhancement and Utilization, Nanjing Agricultural University, Nanjing 210095, China. Electronic address: guchao@njau.edu.cn.

Journal Article , 2025

Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.

Bonniaud B; Service de Dermatologie, CHU Dijon Bourgogne, 21079, Dijon, France., Luu M; Centre D'Investigation Clinique Plurithématique, CHU Dijon Bourgogne, 21079, Dijon, France; Equipe Génétique des Anomalies Du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France., Cormier C; Centre de Génétique et Centre de Référence Anomalies Du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Service de Pédiatrie 1, CHU Dijon Bourgogne, 21079, Dijon, France., Racine C; Equipe Génétique des Anomalies Du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Centre de Génétique et Centre de Référence Anomalies Du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France; Centre de Référence Troubles Du Comportement Dans les Anomalies Du Développement (GénoPsy), CHU Dijon-Bourgogne, 21079, Dijon, France., Espitalier A; Centre de Référence Déficiences Intellectuelles de Causes Rares, Défi-Bourgogne, CHU Dijon Bourgogne, 21079, Dijon, France., Malbranche C; Pharmacie, CHU Dijon-Bourgogne, 21079, Dijon, France., Rega A; Department of Vascular and Interventional Radiology, Pediatric Radiology, François-Mitterrand University Hospital, 21079, Dijon, France., Gaumet T; Centre de Référence Déficiences Intellectuelles de Causes Rares, Défi-Bourgogne, CHU Dijon Bourgogne, 21079, Dijon, France., Kuentz P; Equipe Génétique des Anomalies Du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France; Centre de Référence des Maladies Rares de la Peau et des Muqueuses D'origine Génétique (MAGEC), CHU Dijon Bourgogne, 21079, Dijon, France; Université de Franche-Comté, CHU Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, F-25000, Besançon, France., Vabres P; Equipe Génétique des Anomalies Du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France; Centre de Référence des Maladies Rares de la Peau et des Muqueuses D'origine Génétique (MAGEC), CHU Dijon Bourgogne, 21079, Dijon, France., Thauvin-Robinet C; Equipe Génétique des Anomalies Du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Défi-Bourgogne, CHU Dijon Bourgogne, 21079, Dijon, France; Centre de Référence NeuroGène, CHU Dijon-Bourgogne, 21079, Dijon, France., Bardou M; Centre D'Investigation Clinique Plurithématique, CHU Dijon Bourgogne, 21079, Dijon, France; Equipe Génétique des Anomalies Du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France., Gay S; Service de Pédiatrie, CH William-Morey, 71100, Chalon-sur-Saône, France., Faivre L; Equipe Génétique des Anomalies Du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Centre de Génétique et Centre de Référence Anomalies Du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France; Centre de Référence Troubles Du Comportement Dans les Anomalies Du Développement (GénoPsy), CHU Dijon-Bourgogne, 21079, Dijon, France. Electronic address: laurence.faivre@chu-dijon.fr., Delanne J; Centre de Génétique et Centre de Référence Anomalies Du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Défi-Bourgogne, CHU Dijon Bourgogne, 21079, Dijon, France.

Case Reports; Journal Article , 2025