Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy

Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy

IntroductionDNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism.Case DescriptionWe report a case of homozygous...

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Bibliographic Details
Main Authors: Saud Alwatban, Haifa Alfaraidi, Abdulaziz Alosaimi, Iram Alluhaydan, Majid Alfadhel, Michel Polak, Angham Almutair
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Endocrinology
Subjects:
DNAJC3
diabetes
monogenic diabetes
case report
pancreatic atrophy
neurodegeneration
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.742278/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.742278/full

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