Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness
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DOI: 10.1002/mgg3.1177
Abstract: Nonsyndromic hearing loss is clinically and genetically heterogeneous. In this study, we characterized the clinical features of 12 Chinese Han deaf families in which mutations in common deafness genes GJB2, SLC26A4, and MT‐RNR1 were excluded. read more here.
Keywords: chinese han; study; study chinese; clinical genetic ... See more keywords
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
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DOI: 10.1155/2018/7272308
Abstract: Genetic hearing impairment is highly heterogeneous. In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. Consistent with… read more here.
Keywords: chinese han; ildr1; two chinese; deafness ... See more keywords