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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777856/
https://www.ncbi.nlm.nih.gov/pubmed/19889212
http://dx.doi.org/10.1186/1750-1172-4-25

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