YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
Author:
Funder
Diabetes UK
Wellcome Trust
Horizon 2020
Welbio/FRFS
Academy of Finland
European Research Council
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/141455/files/pdf
Reference64 articles.
1. HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months
2. Permanent diabetes mellitus in the first year of life
3. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
4. Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts
5. A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
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