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Article

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant.

American journal of medical genetics. Part A - 1 Jun 2026

Connolly Christopher, Parmar Hemant A, Hipp Lauren, Higashimoto Tomoyasu

Abstract excerpt

FOXA2 (hepatocyte nuclear factor-3β, HNF-3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 which encompassed the FOXA2 gene were reported. With improvement in...

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Identifiers

PMID: 41693634
DOI: 10.1002/ajmg.a.70089

Genes

FOXA2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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