Article
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
Diabetes - 1 Jul 2017
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
Abstract excerpt
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 unrelated, unaffected parents to identify the genetic etiology of a syndrome characterized by neonatal diabetes,...
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