A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

Abstract excerpt

BACKGROUND: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterine aplasia in an XX individual with normal secondary characteristics. It has long been considered a sporadic anomaly, but familial clustering occurs. Several candidate genes have been studied...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Share to Genetic Syndromes and Imprinting
• Share to Gynecological conditions and treatments