title: Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.
authors: CNRS, UMR 6061-IGDR, Equipe 'Génétique des Pathologies Liées au Développement', Rennes, France.
authors: Karine
authors: K
authors: Morcel
authors: Bruno
authors: B
authors: Dallapiccola
authors: Laurent
authors: L
authors: Pasquier
authors: Tanguy
authors: T
authors: Watrin
authors: Laura
authors: L
authors: Bernardini
authors: Daniel
authors: D
authors: Guerrier
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000013:Congenital Abnormalities; D005820:Genetic Testing / Q000379:methods; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D060850:LIM-Homeodomain Proteins / Q000235:genetics; D009095:Mullerian Ducts / Q000002:abnormalities; D009154:Mutation; D011379:Prognosis; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D012680:Sensitivity and Specificity; D000074122:Short Stature Homeobox Protein; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D020825:T-Box Domain Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities
chemical_list: C496495:HNF1B protein, human; D018398:Homeodomain Proteins; C482680:ITIH5 protein, human; C085473:LHX1 protein, human; D060850:LIM-Homeodomain Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D020825:T-Box Domain Proteins; C491182:TBX6 protein, human; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta