Saud Alwatban Haifa Alfaraidi Abdulaziz Alosaimi Iram Alluhaydan Majid Alfadhel Michel Polak Angham Almutair
10.3389/fendo.2021.742278
Front Endocrinol (Lausanne)
2021 Sep 24;12:742278.
dnajc3 case report diabetes hypothyroidism monogenic diabetes neurodegeneration pancreatic atrophy short stature
CC BY
https://pubmed.ncbi.nlm.nih.gov/34630333/
Diabetes Mellitus / genetics HSP40 Heat-Shock Proteins / genetics Pancreas / pathology
Diabetes Mellitus / genetics HSP40 Heat-Shock Proteins / genetics Pancreas / pathology Case Reports Adolescent Adult Atrophy Body Height Brain / diagnostic imaging Child Child, Preschool Consanguinity Diabetes Mellitus / pathology Exome Sequencing Gait Ataxia / etiology Gait Ataxia / genetics Humans Hypothyroidism / etiology Hypothyroidism / genetics Infant Intellectual Disability / etiology Intellectual Disability / genetics Magnetic Resonance Imaging Male Mutation Thyroid Nodule / complications DNAJC3 protein, human HSP40 Heat-Shock Proteins
PMC8497828
34630333
Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy
2021