Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient

Clin Chem Lab Med. 2019 Nov 26;57(12):e306-e310. doi: 10.1515/cclm-2019-0137.
No abstract available

Keywords: HNF1A; MODY3; deletion 12q24.31.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chromosomes, Human, Pair 12 / genetics*
  • Diabetes Mellitus / genetics
  • Diabetes Mellitus, Type 2 / diagnosis*
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Humans
  • Phenotype
  • Sequence Deletion / genetics

Supplementary concepts

  • Maturity-Onset Diabetes of the Young, Type 3