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.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
coffin-lowry syndrome
12
rps6ka3 gene
8
novel mutation
4
mutation rps6ka3
4
gene patient
4
patient coffin-lowry
4
syndrome coffin-lowry
4
syndrome x-linked
4
x-linked disorder
4
disorder characterized
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!