Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

<p>Abstract</p> <p>Background</p> <p>Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformatio...

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Bibliographic Details
Main Authors: Novelli Antonio, Fedele Luigi, Divizia Maria, Barbano Giancarlo, Frontino Giada, Baban Anwar, Carella Massimo, Gervasini Cristina, Gimelli Stefania, Bernardini Laura, Béna Frédérique, Lalatta Faustina, Miozzo Monica, Dallapiccola Bruno
Format: Article
Language:English
Published: BMC 2009-11-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/4/1/25