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Article

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis.

BMC ophthalmology - 14 Jan 2021

Nebbioso Marcella, Franzone Federica, Lambiase Alessandro, La Cava Maurizio, Mallone Fabiana, Pizzuti Antonio, Marchionni Enrica

Abstract excerpt

BACKGROUND: Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large application of Next Generation Sequencing (NGS) approaches improved the diagnostic yield, elucidating previously unexplained RP causes and new genotype-phenotype correlations. The...

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Identifiers

PMID: 33446141
DOI: 10.1186/s12886-020-01791-5
PMCID: PMC7807486

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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