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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Am J Med Genet A
Main Authors: Guan, Jing, Wang, Hongyang, Lan, Lan, Wang, Li, Yang, Ju, Xie, Linyi, Yin, Zifang, Xiong, Wenping, Zhao, Lidong, Wang, Dayong, Wang, Qiuju
פורמט: Artigo
שפה:Inglês
יצא לאור: John Wiley and Sons Inc. 2017
נושאים:
Original Articles
גישה מקוונת: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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