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Article

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

Neurogenetics - 1 Apr 2007

Kesler Shelli R, Simensen Richard J, Voeller Kytja, Abidi Fatima, Stevenson Roger E, Schwartz Charles E, Reiss Allan L

Abstract excerpt

Coffin-Lowry syndrome (CLS) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with cognitive impairment and skeletal malformations. We conducted the first morphometric study of CLS brain morphology by comparing brain volumes from two CLS families with healthy controls. Individuals with CLS consistently showed markedly reduced total brain volume. Cerebellum and...

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Identifiers

PMID: 17318637
DOI: 10.1007/s10048-007-0080-6
PMCID: PMC3055244

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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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