ESPE Abstracts

ESPE Abstracts

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hrp0094fc4.6 | Diabetes | ESPE2021

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort

McGlacken-Byrne Sinead M. , Mohammad Jasmina Kallefullah , Conlon Niamh , Gubaeva Diliara , Siersbaek Julie , Jorgen Schou Anders , Demibilek Huseyin , Dastamani Antonia , Houghton Jayne , Brusgaard Klaus , Melikyan Maria , Christesen Henrik , Flanagan Sarah E. , Murphy Nuala P. , Shah Pratik ,

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...
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ESPE Abstracts

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