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

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

Human mutation - 1 Apr 2021

Zeitz Christina, Nassisi Marco, Laurent-Coriat Caroline, Andrieu Camille, Boyard Fiona, Condroyer Christel, Démontant Vanessa, Antonio Aline, Lancelot Marie-Elise, Frederiksen Helen, Kloeckener-Gruissem Barbara, El-Shamieh Said, Zanlonghi Xavier, Meunier Isabelle, Roux Anne-Françoise, Mohand-Saïd Saddek, Sahel José-Alain, Audo Isabelle

Abstract excerpt

Choroideremia is an X-linked inherited retinal disorder (IRD) characterized by the degeneration of retinal pigment epithelium, photoreceptors, choriocapillaris and choroid affecting males with variable phenotypes in female carriers. Unlike other IRD, characterized by a large clinical and genetic heterogeneity, choroideremia shows a specific phenotype with causative mutations in only one gene, CHM. Ongoing gene...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Choroideremia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Source

Identifiers

PMID: 33538369
DOI: 10.1002/humu.24174

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.PMID 33538369Read ↗

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.Semantic proximity Read ↗

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.Semantic proximity Read ↗

CHOROIDEREMIASemantic proximity Read ↗

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.Semantic proximity Read ↗

Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.Semantic proximity Read ↗

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.Semantic proximity Read ↗

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.Semantic proximity Read ↗

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosaSemantic proximity Read ↗

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.Semantic proximity Read ↗

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapySemantic proximity Read ↗

Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.Semantic proximity Read ↗

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