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

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

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Veröffentlicht in:	Journal of medical genetics 2011-01, Vol.48 (3), p.197-204
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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