Associated Papers
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
De Franco E et al.
American Journal of Human Genetics, 2019
31006513 (PubMed )
Supplement: mmc1.pdf
Transcription factor Ptf1a in development, diseases and reprogramming.
Jin K et al.
Cellular and Molecular Life Sciences : Cmls, 2019
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.
Al-Shammari M et al.
Clinical Genetics, 2011
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
Sellick GS et al.
Nature Genetics, 2004
Select a paper to view details