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Article

Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.

Human molecular genetics - 15 Nov 2017

Giri Dinesh, Vignola Maria Lillina, Gualtieri Angelica, Scagliotti Valeria, McNamara Paul, Peak Matthew, Didi Mohammed, Gaston-Massuet Carles, Senniappan Senthil

Abstract excerpt

Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion despite hypoglycaemia that can occur in isolation or as part of a wider syndrome. Molecular diagnosis is unknown in many cases of CH and CHI. The underlying genetic...

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Identifiers

PMID: 28973288
DOI: 10.1093/hmg/ddx318

Genes

FOXA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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