Article

A novel compound heterozygous mutation in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree

2023-05-04

Abstract excerpt

<title>Abstract</title> <p>Cystic 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 (<italic>CFTR</italic>) are among the most common pathogenic factors i...

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Literature Corpus work: 278175e3-d772-5bba-bd01-5f2cf5205431
DOI: 10.21203/rs.3.rs-2855321/v1

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