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Article

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

Genetic testing and molecular biomarkers - 1 Feb 2009

Conte Chiara, D'Apice Maria Rosaria, Botta Annalisa, Sangiuolo Federica, Novelli Giuseppe

Abstract excerpt

Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, mental retardation, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue,...

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Source

Identifiers

PMID: 19309286
DOI: 10.1089/gtmb.2008.0092

Genes

ERCC8
ERCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19309286-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.PMID 19309286Read ↗

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