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Article

Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Sept 2012

Huang Alex S, Kim Leo A, Fawzi Amani A

Abstract excerpt

OBJECTIVE: To describe a large family with a novel mutation in CHM. METHODS: Family members were characterized using clinical examination, wide-field fundus photography, wide-field autofluorescence, and spectral domain optical coherence tomography. The CHM mutation was identified with the Nationa...

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Source

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Identifiers

PMID: 22965595
DOI: 10.1001/archophthalmol.2012.1117
PMCID: PMC3984921

Genes

CHM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22965595-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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