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Article

Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.

American journal of medical genetics. Part A - 1 Jan 2012

Kayserili Hülya, Altunoglu U, Ozgur H, Basaran S, Uyguner Z O

Abstract excerpt

We report on a boy born to consanguineous parents, who had hypertelorism, a broad nasal bridge, ridge and tip, bifid nasal tip, cleft alae nasi, broad columella, unilateral preauricular tag, shallow labiogingival sulcus, and bilateral large parietal foramina. Cranial MRI revealed a kinked corpus body and small cerebellar vermis. Molecular analysis uncovered a homozygous c.673C > G (p.Q225E) mutation in ALX4 gene....

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Source

Identifiers

PMID: 22140057
DOI: 10.1002/ajmg.a.34390

Genes

ALX4

Provenance

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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