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Article

A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.

European journal of medical genetics - 1 Nov 2021

Fontana Paolo, Ginevrino Monia, Bejo Kristel, Cantalupo Giuseppina, Ciavarella Maria, Lombardi Cinzia, Maioli Marianna, Scarano Francesca, Costabile Claudia, Novelli Antonio, Lonardo Fortunato

Abstract excerpt

Several patients with chromosomal deletions including ZFHX4 gene have been described, whereas point mutations are very rare. This gene encodes for a transcription factor involved in the development of several embryonal processes, including brain differentiation. Patients with 8q21.11 deletions usually show intellectual disability, short stature, peculiar facial features, and severe eye abnormalities. We describe...

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Source

Identifiers

PMID: 34461323
DOI: 10.1016/j.ejmg.2021.104321

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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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