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Article

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.

Molecular vision - 10 Feb 2010

Aldahmesh Mohammed A, Al-Owain Mohammed, Alqahtani Faisal, Hazzaa Salwa, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To describe the finding of a novel calcium binding protein 4 (CABP4) mutation in a family with Leber congenital amaurosis (LCA) phenotype. METHODS: Homozygosity mapping was performed in a consanguineous family with four affected members originally referred as cases of LCA. Detailed elect...

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Source

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Identifiers

PMID: 20157620
PMCID: PMC2820108

Genes

CABP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20157620-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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