Article
The unique clinical spectrum of maturity onset diabetes of the young type 3.
Diabetes research and clinical practice - 1 Jan 2018
Lebenthal Yael, Fisch Shvalb Naama, Gozlan Yael, Tenenbaum Ariel, Tenenbaum-Rakover Yardena, Vaillant Emmanuel, Froguel Phillipe, Vaxillaire Martine, Gat-Yablonski Galia
Abstract excerpt
Phenotypic variability in maturity-onset diabetes of the young (MODY) makes screening criteria for genomic analysis challenging. We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer. Although uncommon, pancreatic autoantibodies and diabetes ketoacidosis should not exclude the diagnosis of MODY.
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