A Comprehensive Genotype-phenotype Evaluation of Eight Chinese Probands with Waardenburg Syndrome
收藏NIAID Data Ecosystem2026-03-14 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP401065
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资源简介：
Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. The aim of this study was to clarify the clinical characteristics and the genetic cause in eight Chinese WS families (including three familial and five sporadic cases). Further genotype-phenotype relationships were also investigated.
创建时间：
2022-10-07
