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Article

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

European journal of human genetics : EJHG - 1 Jan 1999

Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz C E

Abstract excerpt

Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation. CLS had previously been mapped to Xp22.2. Recently, mutations in the ribosomal S6 kinase (Rsk-2) gene were shown to be associated with CLS. We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation...

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Identifiers

PMID: 10094187
DOI: 10.1038/sj.ejhg.5200231

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).PMID 10094187Read ↗

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