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Article

Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.

American journal of medical genetics. Part A - 1 Aug 2009

Xiao Xueshan, Zhang Qingjiong

Abstract excerpt

X-linked ocular albinism (OA1) is the most common form of ocular albinism. Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopigmentation, macular hypoplasia, and normally pigmented skin and hair. However, OA1 has rarely bee...

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Source

Identifiers

PMID: 19610097
DOI: 10.1002/ajmg.a.32818

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19610097-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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