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Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees

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Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. Mutations of CFTR caused the majority of CBAVD cases, and ADGRG2 was… Click to show full abstract

Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. Mutations of CFTR caused the majority of CBAVD cases, and ADGRG2 was recently identified as a new pathogenic gene. Yet, most of the genetic evidence came from sporadic cases, and only one mutation in CFTR can be found in patients.

Keywords: causing cbavd; cftr causing; heterozygous mutations; cbavd; mutations cftr; compound heterozygous

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018

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