Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

Waardenburg syndrome (WS) is a prevalent hearing loss syndrome, concomitant with focal skin pigmentation abnormalities, blue iris, and other abnormalities of neural crest-derived cells, including Hirschsprung’s disease. WS is clinically and genetically heterogeneous and it is classified into four ma...

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Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Jensen, Laran T., Chunsuwan, Issarapa, Rojnueangnit, Kitiwan, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Shiao, Meng-Shin, Sirachainan, Nongnuch, Wattanasirichaigoon, Duangrurdee
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756068/
https://ncbi.nlm.nih.gov/pubmed/33362852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.589784
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