Frontiers in Endocrinology · 2019 · 25 citations · 17 references
MedicineEndocrinologyGeneticsDiabetologyHuman GeneticsMedical GeneticsDiabetes MellitusGenetic DisordersInherited Endocrine SyndromesPancreatic DiseasesPancreatic DisordersRare Disease GeneticsDiabetes DiagnosisDiabetes Mellitus PathophysiologyExocrine Pancreatic DiseaseExocrine Pancreatic DysfunctionMonogenic DiabetesMutationPancreatic DiabetesPancreatic Exocrine Function
Maturity-onset diabetes of the young (MODY) is the most common monogenetic diabetes, which is easily misdiagnosed. We describe the first Chinese MODY4 family with a novel mutation, indicating that MODY4 cannot be excluded in early-onset obese diabetes, and pancreatic exocrine dysfunction could be present in MODY4.
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
Catherine Pihoker, Lisa K. Gilliam, Sian Ellard et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 407 citations · Full text