Hum Genet 2021 Apr 19;140(4):667-680. Epub 2021 Jan 19.
Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA.
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. Read More