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

INTRODUCTION: DNAJC3, 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 DESCRIPTION: We report a case of homoz...

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Detalles Bibliográficos
Autores principales: Alwatban, Saud, Alfaraidi, Haifa, Alosaimi, Abdulaziz, Alluhaydan, Iram, Alfadhel, Majid, Polak, Michel, Almutair, Angham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497828/
https://www.ncbi.nlm.nih.gov/pubmed/34630333
http://dx.doi.org/10.3389/fendo.2021.742278

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497828/
https://www.ncbi.nlm.nih.gov/pubmed/34630333
http://dx.doi.org/10.3389/fendo.2021.742278

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