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Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defect...

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Detalles Bibliográficos
Autores principales:	Dell’Edera, Domenico, Allegretti, Arianna, Ventura, Mario, Mercuri, Ludovica, Mitidieri, Angela, Cuscianna, Giacinto, Epifania, Annunziata Anna, Morizio, Elisena, Alfonsi, Melissa, Guanciali-Franchi, Paolo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058992/ https://www.ncbi.nlm.nih.gov/pubmed/33883018 http://dx.doi.org/10.1186/s13256-021-02716-6

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