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Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and\/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss. The causal gene, <jats:italic>RSK2<\/jats:italic>, was identified in 1996 and contains 22 exons which encode a protein of 740 amino acids. Over 75 distinct pathogenic mutations have been identified in 250 unrelated CLS patients.<\/jats:p>","DOI":"10.1136\/jmg.39.10.705","type":"journal-article","created":{"date-parts":[[2002,10,2]],"date-time":"2002-10-02T10:41:46Z","timestamp":1033555306000},"page":"705-713","source":"Crossref","is-referenced-by-count":135,"title":["Coffin-Lowry syndrome: clinical and molecular features"],"prefix":"10.1136","volume":"39","author":[{"given":"A","family":"Hanauer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I 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