title: A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.
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.
authors: Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. drsaliha007@yahoo.com.tr
authors: S
authors: S
authors: Senel
authors: S
authors: S
authors: Ceylaner
authors: G
authors: G
authors: Ceylaner
authors: A Hanli
authors: AH
authors: Sahin
authors: J
authors: J
authors: Andrieux
authors: J P
authors: JP
authors: Delaunoy