High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

BACKGROUND: Congenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Müllerian aplasia or Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 fem...

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Main Authors: Nik-Zainal, Serena, Strick, Reiner, Storer, Mekayla, Huang, Ni, Rad, Roland, Willatt, Lionel, Fitzgerald, Tomas, Martin, Vicki, Sandford, Richard, Carter, Nigel P, Janecke, Andreas R, Renner, Stefan P, Oppelt, Patricia G, Oppelt, Peter, Schulze, Christine, Brucker, Sara, Hurles, Matthew, Beckmann, Matthias W, Strissel, Pamela L, Shaw-Smith, Charles
Formato: Artigo
Idioma:Inglês
Publicado: 2011
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322361/
https://ncbi.nlm.nih.gov/pubmed/21278390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.082412
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