Article
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
American journal of human genetics - 1 Dec 1998
Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J L, Sassone-Corsi P, Hanauer A
Abstract excerpt
Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. By using a positional cloning approach, we have recently shown that mutations in the gene coding for the RSK2 serine-threoni...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Alleles
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exons
- Female
- Genetic Heterogeneity
- Genetic Linkage
- Humans
- Intellectual Disability
- Introns
- Male
- Mutation
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