A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome
Senel, S.; Ceylaner, S.; Ceylaner, G.; Sahin, A.H.; Andrieux, J.; Delaunoy, J.P.
Genetic Counseling 22(1): 21-24
2011
ISSN/ISBN: 1015-8146 PMID: 21614984 Document Number: 653573
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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