Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

  title={Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis},
  author={M. N. Weedon and Ines Cebola and A M Patch and Sarah E Flanagan and Elisa De Franco and Richard Caswell and Santiago A. Rodr{\'i}guez-Segu{\'i} and Charles J. Shaw-Smith and Candy H-H. Cho and Hana Lango Allen and Jayne AL. Houghton and Christian L Roth and Rongrong Chen and Khalid Hussain and Phil Marsh and Ludovic Vallier and Anna Murray and Sian Ellard and Jorge Ferrer and Andrew T Hattersley},
  booktitle={Nature Genetics},
The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. This analysis uncovered six different recessive… CONTINUE READING
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extensions and updates 2013

  • Meyer, L. R. et al. The UCSC Genome Browser database
  • Nucleic Acids Res. 41, D64–D69
  • 2013

from pancreatic agenesis to adult - onset diabetes without exocrine insufficiency

  • G. S. Sellick
  • 2013

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