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Article

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

European journal of medical genetics - 1 Jan 2000

Jurkiewicz Dorota, Jezela-Stanek Aleksandra, Ciara Elzbieta, Piekutowska-Abramczuk Dorota, Kugaudo Monika, Gajdulewicz Maria, Chrzanowska Krystyna, Popowska Ewa, Krajewska-Walasek Małgorzata

Abstract excerpt

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder caused by mutations in the RSK2 gene and characterized by moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers in males. Females are usually much more mildly and variably affected thus more difficult to diagnose. In this study, molecular genetic analysis was carried out in four female...

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Identifiers

PMID: 20637903
DOI: 10.1016/j.ejmg.2010.07.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Four novel RSK2 mutations in females with Coffin-Lowry syndrome.PMID 20637903Read ↗

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