Article
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
American journal of obstetrics and gynecology - 1 Oct 2010
Oram Richard A, Edghill Emma L, Blackman Jenny, Taylor Miles J O, Kay Tracey, Flanagan Sarah E, Ismail-Pratt Ida, Creighton Sarah M, Ellard Sian, Hattersley Andrew T, Bingham Coralie
Abstract excerpt
OBJECTIVE: Congenital uterine abnormalities are common and may be associated with developmental renal abnormalities. Mutations of the hepatocyte nuclear factor-1β (HNF1B) gene are associated with renal and uterine abnormalities. We aimed to study the role of HNF1B mutations in a cohort with congenital uterine abnormalities. STUDY DESIGN: We tested 108 probands with uterine abnormalities for HNF1B mutations. We...
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