Article
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia.
Prenatal diagnosis - 1 Jan 2014
Body-Bechou Delphine, Loget Philippe, D'Herve Dominique, Le Fiblec Bernard, Grebille Anne-Gaelle, Le Guern Hélène, Labarthe Caroline, Redpath Margaret, Cabaret-Dufour Anne-Sophie, Sylvie Odent, Fievet Alice, Antignac Corinne, Heidet Laurence, Taque Sophie, Patrice Poulain
Abstract excerpt
OBJECTIVE: The aim of this study was to document the association between pancreatic agenesis or hypoplasia and multicystic renal dysplasia related to transcription factor 2 (TCF2) or hepatocyte nuclear factor 1 beta mutations. METHODOLOGY: We describe the phenotype of the pancreas and the kidneys from three fetuses heterozygous for a mutation of TCF2. CASES: Case 1 had bilateral hyperechogenic, multicystic...
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