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Article

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Clinical genetics - 1 Mar 2017

Ullah A, Kalsoom U-E, Umair M, John P, Ansar M, Basit S, Ahmad W

Abstract excerpt

Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, telecanthus, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella and smooth philtrum. To date one X-linked and three autosomal recessive forms of FND have been reported in different ethnic groups. We sought to identify the gene responsible for FND in a consanguineous Pakistani...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27324866
DOI: 10.1111/cge.12822

Genes

ALX1

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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Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.PMID 27324866Read ↗

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