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Article

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

The Journal of molecular diagnostics : JMD - 1 Jan 2015

Seong Moon-Woo, Seo Soo Hyun, Yu Young Suk, Hwang Jeong-Min, Cho Sung Im, Ra Eun Kyung, Park Hyunwoong, Lee Seung Jun, Kim Ji Yeon, Park Sung Sup

Abstract excerpt

Leber congenital amaurosis (LCA) is a genetically heterogeneous disorder and the most severe form of inherited retinal dystrophy. We report results of a diagnostic application of an extensive gene panel composed of 204 retinal dystrophy-related genes and discuss its feasibility as a diagnostic tool. Nineteen unrelated LCA patients were included in the study: two patients for validation purposes of our gene panel,...

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PMID: 25445212
DOI: 10.1016/j.jmoldx.2014.09.003

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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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