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Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathologyDegenerative DiseaseNormal IntelligenceDisease Gene IdentificationFamilial Sotos SyndromeMedicineClinical GeneticsInsulin Dependent Diabetes