Compound heterozygous variants in CFTR with potentially reducing ATP‐binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens

Abstract Background Isolated congenital bilateral absence of vas deferens (iCBAVD) in men results in obstructive azoospermia and is mainly caused by pathogenic variants in cystic fibrosis transmembrane conductance regulator (CFTR) or adhesion G protein‐coupled receptor G2 (ADGRG2). Methods The next‐...

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Hauptverfasser:	Shi Shengjia, Wang Lei, Wang Tianwei, Wang Hongmei, Shi Juanzi, Qiao Sen
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2023-11-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	azoospermia CFTR mutation compound heterozygous variant congenital bilateral absence of vas deferens male infertility
Online-Zugang:	https://doi.org/10.1002/mgg3.2249
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