Article
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
Clinical genetics - 1 Aug 2020
Jacquinet Adeline, Boujemla Bouchra, Fasquelle Corinne, Thiry Jerôme, Josse Claire, Lumaka Aimé, Brischoux-Boucher Elise, Dubourg Christèle, David Véronique, Pasquier Laurent, Lehman Anna, Morcel Karine, Guerrier Daniel, Bours Vincent
Abstract excerpt
Congenital uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.