Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
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DOI: 10.1530/eje-21-0897
Abstract: Objective The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multi-centre paediatric cohort of patients with HNF4A or… read more here.
Keywords: hnf4a hnf1a; clinical genetic; hnf1a mutations; paediatric cohort ... See more keywords