A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome |
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| Authors: | Senel S Ceylaner S Ceylaner G Sahin A Hanli Andrieux J Delaunoy J P |
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| Affiliation: | Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. drsaliha007@yahoo.com.tr |
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| Abstract: | Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome. |
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