Article
Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant.
European journal of human genetics : EJHG - 1 Apr 2020
Tan Clara S H, Ang Su Fen, Lim Su Chi
Abstract excerpt
Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of disorders characterised by early onset, lean, non-autoimmunity mediated, non-insulin-dependent diabetes often with autosomal-dominant inheritance and specific pharmaco-genetic response. We describe two siblings with HNF1A-MODY (MODY3) due to a novel germline variant p.(His126Asp) which segregates with diabetes in...
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