Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.

Ophthalmic genetics - 1 Jan 2015

Shifera Amde Selassie, Kay Christine Nichols

Abstract excerpt

PURPOSE: To report a heterozygous female presenting with an early-onset and severe form of X-linked retinitis pigmentosa (XLRP). PATIENTS AND METHODS: This is a case series presenting the clinical findings in a heterozygous female with XLRP and two of her family members. Fundus photography, fundu...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electroretinography
Share to Frameshift Mutation
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinitis Pigmentosa

Share to RNA Splice Sites

Share to Tomography, Optical Coherence

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 24428633
DOI: 10.3109/13816810.2013.879597

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24428633-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.PMID 24428633Read ↗

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.Semantic proximity Read ↗

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.Semantic proximity Read ↗

Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.Semantic proximity Read ↗

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.Semantic proximity Read ↗

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

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

Clinical and molecular findings in children with retinitis pigmentosa.Semantic proximity Read ↗

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.Semantic proximity Read ↗

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.Semantic proximity Read ↗

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report.Semantic proximity Read ↗

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.