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Article

ZFHX3-associated neural tube defect.

BMJ case reports - 5 Nov 2025

Dutta Dibyendu, Aref-Eshghi Erfan, Garg Ria

Abstract excerpt

The zinc finger homeobox 3 (ZFHX3) gene encodes a transcription factor involved in neurodevelopment and organogenesis. ZFHX3 haploinsufficiency is linked to intellectual disability, epilepsy and neurodevelopmental defects, but its potential involvement in neural tube defects (NTDs) and related structural anomalies is unknown. We report a female proband with a de novo heterozygous ZFHX3 variant (NM_006885.3:...

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Identifiers

PMID: 41198152
DOI: 10.1136/bcr-2025-266686

Genes

ZFHX3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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