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Article

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

American journal of medical genetics. Part A - 1 Feb 2016

Hufnagel Robert B, Zimmerman Sarah L, Krueger Laura A, Bender Patricia L, Ahmed Zubair M, Saal Howard M

Abstract excerpt

The frontonasal dysplasias are a group of craniofacial phenotypes characterized by hypertelorism, nasal clefting, frontal bossing, and abnormal hairline. These conditions are caused by recessive mutations in members of the aristaless gene family, resulting in abnormal cranial neural crest migration and differentiation. We report a family with a dominantly inherited craniofacial phenotype comprised of frontal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26581443
DOI: 10.1002/ajmg.a.37441
PMCID: PMC8108007

Genes

SIX2

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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