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

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

European journal of human genetics : EJHG - 1 Apr 2018

Schalk Audrey, Greff Géraldine, Drouot Nathalie, Obringer Cathy, Dollfus Hélène, Laugel Vincent, Chelly Jamel, Calmels Nadège

Abstract excerpt

Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity. This rare disease is linked to disease-causing variations in the ERCC6 (CSB) and ERCC8 (CSA) genes. Various degrees of severity have been described according to age at onset and survival, without any...

Read the complete abstract on PubMed

Topics

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

Share to Cells, Cultured
Share to Child

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

Share to Cockayne Syndrome

Share to DNA Repair Enzymes

Share to Infant

Share to Introns

Share to RNA Splice Sites

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 29422660
DOI: 10.1038/s41431-017-0009-y
PMCID: PMC5891492

Genes

ERCC8
ERCC6

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

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.PMID 29422660Read ↗

Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.Semantic proximity Read ↗

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.Semantic proximity Read ↗

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.Semantic proximity Read ↗

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variation and exon 1 deletionSemantic proximity Read ↗

Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.Semantic proximity Read ↗

Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.Semantic proximity Read ↗

Cockayne syndrome: the expanding clinical and mutational spectrum.Semantic proximity Read ↗

Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.Semantic proximity Read ↗

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.Semantic proximity Read ↗

Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblingsSemantic proximity Read ↗

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.Semantic proximity Read ↗

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.Semantic proximity Read ↗

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