Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families
To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts.
Source: fertstert.org