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Article

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.

European journal of endocrinology - 22 Feb 2022

McGlacken-Byrne Sinéad M, Mohammad Jasmina Kallefullah, Conlon Niamh, Gubaeva Diliara, Siersbæk Julie, Schou Anders Jørgen, Demirbilek Huseyin, Dastamani Antonia, Houghton Jayne A L, Brusgaard Klaus, Melikyan Maria, Christesen Henrik, Flanagan Sarah E, Murphy Nuala P, Shah Pratik

Abstract excerpt

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 multicentre paediatric cohort of patients with HNF4Aor HNF1Amutations presenting with HH over a 25-year period (1995-2020). METHODS: Clinical and genetic analysis data from five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35089870
DOI: 10.1530/EJE-21-0897

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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