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Article

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.

Clinical genetics - 1 Jan 2014

Maystadt I, Destree A, Benoit V, Aeby A, Lederer D, Moortgat S, Jurkiewicz D, Krajewska-Walasek M, Hanauer A, Thomas G M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ribosomal Protein S6 Kinases, 90-kDa

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PMID: 23495752
DOI: 10.1111/cge.12122

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RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.PMID 23495752Read ↗

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X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).Semantic proximity Read ↗

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Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.Semantic proximity Read ↗

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.Semantic proximity Read ↗

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