Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations

Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations

Congenital absence of the vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations of CFTR and ADGRG2 cause the majority of CAVD. Despite this, 10%–20% of CAVD patients remain without a clear genetic diagnosis. Herein, the CFTR and ADGRG2 genes were first sequenced using Sanger seq...

Full description

Bibliographic Details
Main Authors: Jianzheng Fang, Xiaoyi Wang, Xueping Sun, Yugui Cui, Feiyang Diao, Xiaoyu Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
congenital absence of the vas deferens (CAVD)
CFTR
hypospadias
whole-exome sequencing (WES)
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1035468/full

Similar Items

Similar Items