Novel recessive PDZD7 biallelic mutations in two Chinese families with non‐syndromic hearing loss

Autosomal recessive non‐syndromic hearing loss (ARNSHL) is a highly heterogeneous genetic condition. PDZD7 has emerged as a new genetic etiology of ARNSHL. Biallelic mutations in the PDZD7 gene have been reported in two German families, four Iranian families, and a Pakistani family with ARNSHL. The...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Guan, Jing, Wang, Hongyang, Lan, Lan, Wang, Li, Yang, Ju, Xie, Linyi, Yin, Zifang, Xiong, Wenping, Zhao, Lidong, Wang, Dayong, Wang, Qiuju
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2017
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5765442/
https://ncbi.nlm.nih.gov/pubmed/29048736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38477
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