title: Absence of WNT4 gene mutation in a patient with MURCS association.
abstract: MURCS (Mullerian duct aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia) association is a group of congenital genito-urinary and skeletal malformations. We report an adolescent girl with the cardinal features of MURCS association, obesity, and clinical findings of hyperandrogenism who did not show any exonic mutation of the WNT4 gene. Our finding excludes WNT4 gene as a candidate for MURCS association and suggests the need for further genetic studies.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Shoar
authors.forename: Tapan
authors.initials: T
authors.lastname: Ganguly
authors.forename: Carol E
authors.initials: CE
authors.lastname: Anderson
authors.forename: Francesco
authors.initials: F
authors.lastname: De Luca
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Suarez
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D017588:Hyperandrogenism / Q000150:complications / Q000235:genetics; D007674:Kidney Diseases / Q000235:genetics*; D009095:Mullerian Ducts / Q000002:abnormalities*; D009765:Obesity / Q000150:complications; D025064:Sex Chromosome Disorders / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography; D014599:Uterus / Q000002:abnormalities / Q000000981:diagnostic imaging; D060528:Wnt4 Protein / Q000235:genetics*
chemical_list: C555581:WNT4 protein, human; D060528:Wnt4 Protein