Related Experiment Video
Updated: Jun 1, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome
S Senel1, S Ceylaner, G Ceylaner
1Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. drsaliha007@yahoo.com.tr
Genetic Counseling (Geneva, Switzerland)
|May 28, 2011
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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