Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutations

Abstract excerpt

Heterozygous mutations in the HNF1beta/vHNF1/TCF2 gene cause maturity-onset diabetes of the young (MODY5), associated with severe renal disease and abnormal genital tract. Here, we characterize two fetuses, a 27-week male and a 31.5-week female, carrying novel mutations in exons 2 and 7 of HNF1beta, respectively. Although these mutations were predicted to have different functional consequences, both fetuses...

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• Share to Gestational Diabetes Research and Management
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