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

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.

Molecular medicine reports - 1 Jun 2017

He Chunxia, Sun Mao, Wang Guoxia, Yang Ying, Yao Libo, Wu Yuanming

Abstract excerpt

Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe...

Read the complete abstract on PubMed

Topics

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

Share to Cockayne Syndrome
Share to DNA Helicases
Share to DNA Repair Enzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Magnetic Resonance Imaging

Share to Poly-ADP-Ribose Binding Proteins

Share to Prenatal Diagnosis

Share to Tomography, X-Ray Computed

Source

Open in PubMed Open full text

Identifiers

PMID: 28440418
DOI: 10.3892/mmr.2017.6487
PMCID: PMC5436194

Genes

ERCC6
ERCC8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.PMID 28440418Read ↗

Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing.Semantic proximity Read ↗

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

Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.Semantic proximity Read ↗

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

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

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

A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.Semantic proximity Read ↗

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?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 ↗

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.Semantic proximity Read ↗

[Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].Semantic proximity Read ↗

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

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