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Article

Novel recessive cone-rod dystrophy caused by POC1B mutation.

JAMA ophthalmology - 1 Oct 2014

Durlu Yusuf K, Köroğlu Çiğdem, Tolun Aslihan

Abstract excerpt

IMPORTANCE: A new form of cone-rod dystrophy (CORD) is described and the gene responsible for the disease is identified. OBJECTIVE: To clinically evaluate 4 patients and 5 control relatives, perform disease gene mapping, and identify the gene defect responsible for CORD. DESIGN, SETTING, AND PARTICIPANTS: Prospective observational case series of 13 members of a consanguineous family and 113 unrelated control...

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Source

Identifiers

PMID: 24945461
DOI: 10.1001/jamaophthalmol.2014.1658

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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