Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Case Report and Literature Review: Homozygous DNAJC3 Mutation in a Saudi Family Causing Maturity Onset Diabetes of the Young (MODY), Hypothyroidism, Short Stature, Neurodegeneration, and Hearing Loss
por: Alwatban, Saud Mohammed, et al.
Publicado: (2021) -
Metformin therapy in pediatric type 2 diabetes mellitus and its comorbidities: A review
por: Alfaraidi, Haifa, et al.
Publicado: (2023) -
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
por: Al Tuwaijri, Abeer, et al.
Publicado: (2022) -
Subclinical Neuropathy in Children With Type I Diabetes Mellitus: Tertiary Care Centre Experience
por: Altuwaijri, Waleed A, et al.
Publicado: (2022) -
HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus
por: Li, Li-Mei, et al.
Publicado: (2022)