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Article

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

American journal of medical genetics. Part A - 1 Feb 2014

Ferrarini Alessandra, Gaillard Muriel, Guerry Frederic, Ramelli Gianpaolo, Heidi Fodstad, Keddache Caroline Verley, Wieland Ilse, Beckmann Jacques S, Jaquemont Sébastien, Martinet Danielle

Abstract excerpt

Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have...

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Share to Chromosome Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Exostoses, Multiple Hereditary

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Source

Identifiers

PMID: 24376213
DOI: 10.1002/ajmg.a.36140

Genes

ALX4
ALX1
ALX3
EFNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.PMID 24376213Read ↗

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Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.Semantic proximity Read ↗

A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family.Semantic proximity Read ↗

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