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 syndrome (MRKH), is defined as congenital agenesis of the uterus, cervix, and upper vagina without definite genetic cause.

https://www.jpagonline.org/article/S1083-3188(23)00399-6/fulltext?rss=yes

Source: Journal of Pediatric and Adolescent Gynecology - September 10, 2023 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