Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. The uterovaginal aplasia is either isolated (type I)...

詳細記述

保存先:
書誌詳細
主要な著者: Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2011
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3072926/
https://ncbi.nlm.nih.gov/pubmed/21406098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-9
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