M üllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways
Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). M üllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Lauryn P. Roth, Lissa X. Yu, Jodie Johnson, Dima Qu'd, Kyle McCracken, Brittany N. Simpson, Christine M. Pennesi Source Type: research