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Article

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

American journal of human genetics - 7 Aug 2014

Smith Joshua D, Hing Anne V, Clarke Christine M, Johnson Nathan M, Perez Francisco A, Park Sarah S, Horst Jeremy A, Mecham Brig, Maves Lisa, Nickerson Deborah A, Cunningham Michael L

Abstract excerpt

Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability. Exome sequencing of one trio and two unrelated probands revealed the same heterozygous variant (c.3487C>T [p....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25105228
DOI: 10.1016/j.ajhg.2014.07.008
PMCID: PMC4129399

Genes

ZSWIM6

Variants

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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