Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

Eitemau Tebyg

• Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
  gan: Weedon, Michael N., et al.
  Cyhoeddwyd: (2013)
• Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
  gan: Evliyaoğlu, Olcay, et al.
  Cyhoeddwyd: (2018)
• Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation
  gan: Houghton, Jayne A.L., et al.
  Cyhoeddwyd: (2016)
• Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus
  gan: Yau, Daphne, et al.
  Cyhoeddwyd: (2017)
• GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
  gan: De Franco, Elisa, et al.
  Cyhoeddwyd: (2013)