A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01613.x/fullpdf
Reference15 articles.
1. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.;Hoveyda;J Med Genet,1999
2. Mutations in PTF1A cause pancreatic and cerebellar agenesis.;Sellick;Nat Genet,2004
3. Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors.;Schaffer;Dev Cell,2010
4. The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas.;Krapp;Genes Dev,1998
5. The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors.;Kawaguchi;Nat Genet,2002
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