Article
HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
Pediatric diabetes - 1 Mar 2012
Gonc E Nazli, Ozturk Burcu Bulum, Haldorsen Ingfrid S, Molnes Janne, Immervoll Heike, Raeder Helge, Molven Anders, Søvik Oddmund, Njølstad Pål R
Abstract excerpt
A small-for-gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin-requiring, non-autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal-development of pancreas. Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an...
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