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Delphine Body-Bechou, Philippe Loget, Dominique D'Herve, Bernard Le Fiblec, Anne-Gaelle Grebille, Hélène Le Guern, Caroline Labarthe, Margaret Redpath, Anne-Sophie Cabaret-Dufour, Odent Sylvie, Alice Fievet, Corinne Antignac, Laurence Heidet, Sophie Taque and Poulain Patrice TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia Prenatal Diagnosis 34

Article first published online: 2 JAN 2014 | DOI: 10.1002/pd.4264

What's already known about this topic?

  • TCF2 mutations are the leading cause of monogenic abnormal kidney development.
  • The absence of genotype–phenotype correlations makes genetic counseling extremely difficult.

What does this study add?

  • The first report of pancreatic agenesis associated with TCF2 mutation.
  • Indicates the importance of visualizing the pancreas during ultrasound examinations if renal malformations are discovered.

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