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

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

23 Jul 2015

Abstract excerpt

PURPOSE: Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely been restricted to case reports and small series, and no...

Read the complete abstract on PubMed

Topics

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

Share to Cancer-related Molecular Pathways
Share to DNA Repair Mechanisms
Share to Microtubule and mitosis dynamics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26204423
DOI: 10.1038/gim.2015.110

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for carePMID 26204423Read ↗

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

Cockayne syndrome: review of 140 cases.Semantic proximity Read ↗

Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.Semantic proximity Read ↗

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

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.Semantic proximity Read ↗

First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendationsSemantic proximity Read ↗

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

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

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

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.Semantic proximity Read ↗

A comprehensive description of the severity groups in Cockayne syndrome.Semantic proximity Read ↗

Advancing the Clinical and Molecular Understanding of Cornelia De Lange Syndrome: A Multidisciplinary Pediatrics Case Series and Review of LiteratureSemantic proximity Read ↗

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