Associated Papers
Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.
Jeffery N et al.
Bmj Open Diabetes Research & Care, 2024
39542526 (PubMed )
Supplement: bmjdrc-12-6-s001.pdf
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
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