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Article

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.

Advances in experimental medicine and biology - 1 Jan 2008

Iannaccone Alessandro, Othman Mohammad I, Cantrell April D, Jennings Barbara J, Branham Kari, Swaroop Anand

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Share to Electroretinography
Share to Genetic Diseases, X-Linked
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18188948
DOI: 10.1007/978-0-387-74904-4_25

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.PMID 18188948Read ↗

X-Linked Recessive Atrophic Macular Degeneration from RPGR MutationSemantic proximity Read ↗

Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

RPGR: part one of the X-linked retinitis pigmentosa story.Semantic proximity Read ↗

Severe Phenotypic Presentation of RPGR-associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case Reports.Semantic proximity Read ↗

A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.Semantic proximity Read ↗

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.Semantic proximity Read ↗

The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?Semantic proximity Read ↗

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene TherapySemantic proximity Read ↗

An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis.Semantic proximity Read ↗

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalitiesSemantic proximity Read ↗

Clinical phenotype associated with the arg141 his mutation in the X-linked retinoschisis gene.Semantic proximity Read ↗

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