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
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 2022
35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf
First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.
Yoshiji S et al.
Journal of the Endocrine Society, 2022
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon, 2021
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
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
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.
Kulkarni A et al.
Indian Pediatrics, 2017
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