Clinical Case Reports · 2013 · 12 citations · 20 references
Life SciencesGeneticsMolecular GeneticsGenetic CounselingHuman GeneticsMedical GeneticsCongenital DisordersCongenital Heart DiseaseCongenital MalformationsDiabetes MellitusGenetic DisordersNeonatal Metabolic DisordersCongenital Cardiovascular MalformationsCongenital Heart Defect MutationsCongenital Heart Disease PathophysiologyCongenital Malformation DevelopmentCongenital Metabolic DisordersMonogenic Congenital Heart DiseaseMonogenic DiabetesTranscription Factor Mutations
KEY CLINICAL MESSAGE: Diabetes in neonates is a monogenetic disease and genetic analysis is warranted to allow best treatment, prognosis, and genetic counseling. Transcription factor mutations may have a variable expression and different organs may be involved.
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