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pancreatic hypoplasia-multicystic renal dysplasia association

Monday 22 January 2007

Synopsis

- bilateral non-obstructive renal dysplasia (BNORD)
- pancreatic hypoplasia association (#16801329#)

Etiology

- germline mutations of TCF2 gene (HNF1beta/MODY5 locus) (MIM.189907)

References

- Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet. 2006 Aug 1;15(15):2363-75. PMID: #16801329#