Article
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
Diabetes - 1 Sept 2016
Houghton Jayne A L, Swift Galvin H, Shaw-Smith Charles, Flanagan Sarah E, de Franco Elisa, Caswell Richard, Hussain Khalid, Mohamed Sarar, Abdulrasoul Majedah, Hattersley Andrew T, MacDonald Raymond J, Ellard Sian
Abstract excerpt
Homozygous truncating mutations in the helix-loop-helix transcription factor PTF1A are a rare cause of pancreatic and cerebellar agenesis. The correlation of Ptf1a dosage with pancreatic phenotype in a mouse model suggested the possibility of finding hypomorphic PTF1A mutations in patients with pancreatic agenesis or neonatal diabetes but no cerebellar phenotype. Genome-wide single nucleotide polymorphism typing...
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