A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens

PURPOSE: Cystic fibrosis transmembrane conductance regulator (CFTR) and adhesion G protein-coupled receptor G2 (ADGRG2) have been identified as the main pathogenic genes in congenital bilateral absence of the vas deferens (CBAVD), which is an important cause of obstructive azoospermia. This study ai...

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Publicado en:J Assist Reprod Genet
Autores principales: Wu, Huan, Gao, Yang, Ma, Cong, Shen, Qunshan, Wang, Jiajia, Lv, Mingrong, Liu, Chunyu, Cheng, Huiru, Zhu, Fuxi, Tian, Shixiong, Elshewy, Nagwa, Ni, Xiaoqing, Tan, Qing, Xu, Xiaofeng, Zhou, Ping, Wei, Zhaolian, Zhang, Feng, He, Xiaojin, Cao, Yunxia
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer US 2020
Materias:
Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7311603/
https://ncbi.nlm.nih.gov/pubmed/32314195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-020-01779-6
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