Article
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.
Molecular genetics & genomic medicine - 1 Oct 2021
Fang Jianzheng, Gao Gao, Liu Jinyong, Cai Lingbo, Cui Yugui, Yang Xiaoyu
Abstract excerpt
BACKGROUND: Persistent Müllerian duct syndrome (PMDS) is defined as the presence of Müllerian duct derivatives in an otherwise normally virilized 46, XY male. It is usually caused by homozygous or compound heterozygous mutations in either the anti-Müllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. The main purpose of the study is to determine the novel mutations of AMHR2 in PMDS patients and their...
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