Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
about
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaMolecular genetics of Müllerian duct formation, regression and differentiationA genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literatureA balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina.Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review.Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Mullerian dysgenesis: a critical review of the literature.Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome[Genetic aspects of fertility disorders].17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.Etiologies of uterine malformations.Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women.Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature.De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
P2860
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P2860
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Frame shift mutation of LHX1 i ...... Kuster-Hauser (MRKH) syndrome.
@ast
Frame shift mutation of LHX1 i ...... Kuster-Hauser (MRKH) syndrome.
@en
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser
@nl
type
label
Frame shift mutation of LHX1 i ...... Kuster-Hauser (MRKH) syndrome.
@ast
Frame shift mutation of LHX1 i ...... Kuster-Hauser (MRKH) syndrome.
@en
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser
@nl
prefLabel
Frame shift mutation of LHX1 i ...... Kuster-Hauser (MRKH) syndrome.
@ast
Frame shift mutation of LHX1 i ...... Kuster-Hauser (MRKH) syndrome.
@en
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser
@nl
P2093
P356
P1433
P1476
Frame shift mutation of LHX1 i ...... Kuster-Hauser (MRKH) syndrome.
@en
P2093
P304
P356
10.1093/HUMREP/DES206
P407
P577
2012-06-26T00:00:00Z