Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

Ledig, S; Brucker, S; Barresi, G; Schomburg, J; Rall, K; Wieacker, P

Ledig, S; Brucker, S; Barresi, G; Schomburg, J; Rall, K; Wieacker, P.

Affiliation

Ledig S; Institute of Human Genetics, Westfälische Wilhelms-University, Vesaliusweg 12-14, Münster 48149, Germany. wieacker@uni-muenster.de

Hum Reprod ; 27(9): 2872-5, 2012 Sep.

Article in En | MEDLINE | ID: mdl-22740494

Subject(s)

Abnormalities, Multiple/genetics; Frameshift Mutation; LIM-Homeodomain Proteins/genetics; Transcription Factors/genetics; 46, XX Disorders of Sex Development; Codon, Terminator; Cohort Studies; Congenital Abnormalities; Female; Gene Deletion; Heterozygote; Humans; Karyotyping; Kidney/abnormalities; Mullerian Ducts/abnormalities; Mutation, Missense; Phenotype; Somites/abnormalities; Spine/abnormalities; Uterus/abnormalities; Vagina/abnormalities

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Abnormalities, Multiple / Frameshift Mutation / LIM-Homeodomain Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Hum Reprod Journal subject: MEDICINA REPRODUTIVA Year: 2012 Type: Article Affiliation country: Germany

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