Home > D. Systemic pathology > Genetic and developmental anomalies > Malformative associations > pancreatic hypoplasia-multicystic renal dysplasia association
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#
