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

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

American journal of medical genetics. Part A - 1 Nov 2014

Shehata Laila, Simeonov Dimitre R, Raams Anja, Wolfe Lynne, Vanderver Adeline, Li Xueli, Huang Yan, Garner Shannon, Boerkoel Cornelius F, Thurm Audrey, Herman Gail E, Tifft Cynthia J, He Miao, Jaspers Nicolaas G J, Gahl William A

Abstract excerpt

Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. We describe siblings with biallelic ERCC6 mutations (NM_000124.2:c. [543+4delA];[2008C>T]) and brain hypomyelination, microcephaly, co...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to DNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair Enzymes

Share to Facies

Share to Hereditary Central Nervous System Demyelinating Diseases

Share to Nervous System Diseases

Share to Poly-ADP-Ribose Binding Proteins

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 25251875
DOI: 10.1002/ajmg.a.36709
PMCID: PMC4205164

Genes

ERCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25251875-2026-09-04.2. 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

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.PMID 25251875Read ↗

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.Semantic proximity Read ↗

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

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

ERCC6L2-associated inherited bone marrow failure syndrome.Semantic proximity Read ↗

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Semantic proximity Read ↗

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.Semantic proximity Read ↗

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.Semantic proximity Read ↗

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

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.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 ↗

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.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 ↗

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