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

BACKGROUND: 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 malformations, including renal, skeletal, hearing and heart defect...

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Bibliografiska uppgifter
Huvudupphovsmän: Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2009
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2777856/
https://ncbi.nlm.nih.gov/pubmed/19889212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-4-25
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