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Article

Stimulus-induced drop episodes in Coffin-Lowry syndrome.

European journal of medical genetics - 1 May 2012

Hahn Jin S, Hanauer André

Abstract excerpt

The Coffin-Lowry syndrome (CLS) is a rare but well-defined X-linked semidominant syndrome characterized by psychomotor and growth retardation, and progressive skeletal changes. CLS is caused by loss of function mutations in the Rps6ka3 gene encoding the ribosomal S6 kinase 2 (RSK2) protein. A dis...

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PMID: 22490425
DOI: 10.1016/j.ejmg.2012.03.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22490425-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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