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

Introduction: Monogenic diabetes results from a mutation in single gene, predominantly inherited and typically affects the young. DNAJC3 acts in attenuating endoplasmic reticulum stress and is found in abundance in pancreatic tissue. Clinical Case: We report a homozygous DNAJC3 mutation in two sibli...

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Detalles Bibliográficos
Autores principales: Alwatban, Saud Mohammed, Alfaraidi, Haifa, Alfadhel, Majid, Almutair, Angham N
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089508/
http://dx.doi.org/10.1210/jendso/bvab048.1419

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089508/
http://dx.doi.org/10.1210/jendso/bvab048.1419

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