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Article

The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

American journal of medical genetics. Part A - 1 Sept 2014

Nishimoto Hiromi Koso, Ha Kyungsoo, Jones Julie R, Dwivedi Alka, Cho Hyun-Min, Layman Lawrence C, Kim Hyung-Goo

Abstract excerpt

Coffin-Lowry syndrome (CLS) is a rare X-linked dominant disorder characterized by intellectual disability, craniofacial abnormalities, short stature, tapering fingers, hypotonia, and skeletal malformations. CLS is caused by mutations in the Ribosomal Protein S6 Kinase, 90 kDa, Polypeptide 3 (RPS6KA3) gene located at Xp22.12, which encodes Ribosomal S6 Kinase 2 (RSK2). Here we analyzed RPS6KA3 in three unrelated...

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PMID: 25044551
DOI: 10.1002/ajmg.a.36488

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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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