Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes. We performed exome sequencing in a patient and his un...

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Gepubliceerd in:Diabetes
Hoofdauteurs: De Franco, Elisa, Flanagan, Sarah E., Yagi, Takuya, Abreu, Damien, Mahadevan, Jana, Johnson, Matthew B., Jones, Garan, Acosta, Fernanda, Mulaudzi, Mphele, Lek, Ngee, Oh, Vera, Petz, Oliver, Caswell, Richard, Ellard, Sian, Urano, Fumihiko, Hattersley, Andrew T.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Diabetes Association 2017
Onderwerpen:
Genetics/Genomes/Proteomics/Metabolomics
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5482085/
https://ncbi.nlm.nih.gov/pubmed/28468959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db16-1296
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