Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.
作者信息
Morcel Karine, Dallapiccola Bruno, Pasquier Laurent, Watrin Tanguy, Bernardini Laura, Guerrier Daniel
机构信息
CNRS, UMR 6061-IGDR, Equipe 'Génétique des Pathologies Liées au Développement', Rennes, France.
出版信息
Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.158. Epub 2011 Sep 7.
Abstract
摘要
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本文引用的文献
1
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.子宫阴道发育不全（Mayer-Rokitansky-Küster-Hauser 综合征）与已知 DiGeorge 或 DiGeorge 样基因座缺失相关。
Orphanet J Rare Dis. 2011 Mar 15;6:9. doi: 10.1186/1750-1172-6-9.
2
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.孤立型和综合征型 Müllerian 发育不全患者中复发性拷贝数变异的高发率。
J Med Genet. 2011 Mar;48(3):197-204. doi: 10.1136/jmg.2010.082412. Epub 2011 Jan 28.
3
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.在一些 I 型 Mayer-Rokitansky-Kuster-Hauser 综合征的病例中发现 SHOX 重复。
Genet Med. 2010 Oct;12(10):634-40. doi: 10.1097/GIM.0b013e3181ed6185.
4
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.通过 array-CGH 鉴定出的 Mayer-Rokitansky-Küster-Hauser 综合征患者的复发性畸变。
Fertil Steril. 2011 Apr;95(5):1589-94. doi: 10.1016/j.fertnstert.2010.07.1062. Epub 2010 Aug 24.
5
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.17q12 重复微缺失导致 Mayer-Rokitansky-Kuster-Hauser（MRKH）综合征：两例病例报告。
Orphanet J Rare Dis. 2009 Nov 4;4:25. doi: 10.1186/1750-1172-4-25.
6
WNT4 and sex development.
Sex Dev. 2008;2(4-5):210-8. doi: 10.1159/000152037. Epub 2008 Nov 5.
7
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.扩展22q11缺失综合征的表型：MURCS联合征
Clin Dysmorphol. 2008 Jan;17(1):13-17. doi: 10.1097/MCD.0b013e3282ef97ee.
8
Genomic imbalances associated with mullerian aplasia.与苗勒管发育不全相关的基因组失衡。
J Med Genet. 2008 Apr;45(4):228-32. doi: 10.1136/jmg.2007.051839. Epub 2007 Nov 26.
9
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.迈耶-罗基坦斯基-库斯特-豪泽综合征（MRKH综合征）
Orphanet J Rare Dis. 2007 Mar 14;2:13. doi: 10.1186/1750-1172-2-13.
10
Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.
Eur J Med Genet. 2007 Jan-Feb;50(1):66-72. doi: 10.1016/j.ejmg.2006.09.003. Epub 2006 Oct 1.
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