Article
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Human genetics - 1 Apr 2021
Mikhael Sasha, Dugar Sonal, Morton Madison, Chorich Lynn P, Tam Kerlene Berwick, Lossie Amy C, Kim Hyung-Goo, Knight James, Taylor Hugh S, Mukherjee Souhrid, Capra John A, Phillips John A, Friez Michael, Layman Lawrence C
Abstract excerpt
PURPOSE: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal, skeletal, cardiac, and auditory defects. The genetic basis is largely unknown except for rare variants in several genes. Many candidate genes have been suggested by mouse models and human studies. The purpose of this study was to narrow down the number of candidate...
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