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Article

ALX4 dysfunction disrupts craniofacial and epidermal development.

Human molecular genetics - 15 Nov 2009

Kayserili Hulya, Uz Elif, Niessen Carien, Vargel Ibrahim, Alanay Yasemin, Tuncbilek Gokhan, Yigit Gokhan, Uyguner Oya, Candan Sukru, Okur Hamza, Kaygin Serkan, Balci Sevim, Mavili Emin, Alikasifoglu Mehmet, Haase Ingo, Wollnik Bernd, Akarsu Nurten Ayse

Abstract excerpt

Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive frontofacial dysostosis syndrome characterized by total alopecia, a large skull defect, coronal craniosynostosis, hypertelorism, severely depressed nasal bridge and ridge, bifid nasal tip,...

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Source

Identifiers

PMID: 19692347
DOI: 10.1093/hmg/ddp391

Genes

ALX4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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