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pancreatic hypoplasia
Monday 22 January 2007
Associations
bilateral non-obstructive renal dysplasia (BNORD) (HNF1beta/MODY5 mutations) in multicystic renal dysplasia-pancreatic hypoplasia association (HP.10745) (16801329)
neonatal diabetes with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia (15592663)
See also
Hypoplasia
pancreatic malformations
pancreatic dysplasia
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
Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia. 2004 Dec;47(12):2160-7. PMID: 15592663
