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

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Nik-Zainal , Serena; Strick , Reiner; Storer , Mekayla; Huang , Ni; Rad , Roland; Willatt , Lionel; Fitzgerald , Tomas; Martin , Vicki; Sandford , Richard; Carter , Nigel P; Janecke , Andreas; Renner , Stefan; Oppelt , Patricia G; Oppelt , Peter; Schulze , Christine; Hurles , Matthew; Beckmann , Matthias; Strissel , Pamela; Shaw-Smith , Charles;
(2011)
  • Publisher: BMJ Publishing Group
  • Related identifiers: doi: 10.1136/jmg.2010.082412
  • Subject: Molecular genetics | Clinical genetics | Reproductive medicine | Medizinische Fakultät | -
    • ddc: ddc:610

International audience; Background: Congenital malformations involving the Mullerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) synd... View more
  • References (10)

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    [2] Nahum GG. Uterine anomalies. How common are they, and what is their distribution among subtypes? J Reprod Med 1998 Oct;43(10):877-887.

    [3] Buttram VC,Jr, Gibbons WE. Mullerian anomalies: a proposed classification. (An analysis of 144 cases). Fertil Steril 1979 Jul;32(1):40-46.

    [4] Folch M, Pigem I, Konje JC. Mullerian agenesis: etiology, diagnosis, and management. Obstet Gynecol Surv 2000 Oct;55(10):644-649. s

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