Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree
Lingyi Li,
Xiaowei Qu,
Chenchen Cui
et al.
Abstract:BackgroundCystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of the vas deferens (CBAVD). Compound heterozygous mutations of cystic fibrosis transmembrane conductance regulator (CFTR) are among the most common pathogenic factors in CBAVD. However, few genealogical analyses have been performed.MethodsIn this study, whole‐exome sequencing and cosegregation analys… Show more
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