MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

Premature ovarian failure (POF) is genetically heterogeneous and manifests as hypergonadotropic hypogonadism either as part of a syndrome or in isolation. We studied two unrelated consanguineous families with daughters exhibiting primary amenorrhea, short stature, and a 46,XX karyotype. A combinatio...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Wood-Trageser, Michelle A., Gurbuz, Fatih, Yatsenko, Svetlana A., Jeffries, Elizabeth P., Kotan, L. Damla, Surti, Urvashi, Ketterer, Deborah M., Matic, Jelena, Chipkin, Jacqueline, Jiang, Huaiyang, Trakselis, Michael A., Topaloglu, A. Kemal, Rajkovic, Aleksandar
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4259971/
https://ncbi.nlm.nih.gov/pubmed/25480036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.11.002
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