Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

Abstract Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disease, characterised by the aplasia of vagina and uterus in women with a 46,XX karyotype. Most cases are sporadic, but familial recurrence has also been described. Herein, we investigated an Italian cohort of 36 unrelated MRKH patie...

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Autores principales: Paola Pontecorvi, Laura Bernardini, Anna Capalbo, Simona Ceccarelli, Francesca Megiorni, Enrica Vescarelli, Irene Bottillo, Nicoletta Preziosi, Maria Fabbretti, Giorgia Perniola, Pierluigi Benedetti Panici, Antonio Pizzuti, Paola Grammatico, Cinzia Marchese
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/e347b9c84de24178941301ab8bedf269
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