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

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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Main Authors: Supranee Thongpradit, Natini Jinawath, Asif Javed, Laran T. Jensen, Issarapa Chunsuwan, Kitiwan Rojnueangnit, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Meng-Shin Shiao, Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Genetics
Subjects:
SOX10
Waardenburg syndrome
genotype-phenotype analysis
Hirschsprung’s disease
platelet dysfunction
platelet storage pool defect
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.589784/full

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https://www.frontiersin.org/articles/10.3389/fgene.2020.589784/full

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