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Article

Clinical characterization of the HOXA1 syndrome BSAS variant.

Neurology - 18 Sept 2007

Bosley T M, Salih M A, Alorainy I A, Oystreck D T, Nester M, Abu-Amero K K, Tischfield M A, Engle E C

Abstract excerpt

BACKGROUND: The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We describe the currently recognized spectrum of ocular motility, inner ear malformations, cerebrovascular anomalies, and cognitive fun...

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Identifiers

PMID: 17875913
DOI: 10.1212/01.wnl.0000276947.59704.cf
PMCID: PMC2826214

Genes

HOXA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17875913-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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