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

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 patients to ex...

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Vydáno v:Sci Rep
Hlavní autoři: Pontecorvi, Paola, Bernardini, Laura, Capalbo, Anna, Ceccarelli, Simona, Megiorni, Francesca, Vescarelli, Enrica, Bottillo, Irene, Preziosi, Nicoletta, Fabbretti, Maria, Perniola, Giorgia, Benedetti Panici, Pierluigi, Pizzuti, Antonio, Grammatico, Paola, Marchese, Cinzia
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2021
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7801512/
https://ncbi.nlm.nih.gov/pubmed/33432050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-79827-5
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