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Article

ERCC6 founder mutation identified in Finnish patients with COFS syndrome.

Clinical genetics - 1 Dec 2010

Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers N G J, Shao H, Wu B L, Ignatius J

Abstract excerpt

Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland wi...

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Source

Identifiers

PMID: 20456449
DOI: 10.1111/j.1399-0004.2010.01424.x

Genes

ERCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20456449-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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