Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

American journal of human genetics - 1 Jun 2002

Zeniou Maria, Pannetier Solange, Fryns Jean-Pierre, Hanauer André

Abstract excerpt

Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that is characterized, in male patients, by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological hand aspects exhibited by patients are essential clues for the diagnosis. CLS is caused by mutations in a gene that is located in Xp22.2 and that encodes RSK2, a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Heterogeneity
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitogen-Activated Protein Kinase 1

Share to Polymorphism, Single-Stranded Conformational

Share to Ribosomal Protein S6 Kinases

Share to RNA Splice Sites

Share to Syndrome

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 11992250
DOI: 10.1086/340607
PMCID: PMC379129

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.PMID 11992250Read ↗

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.Semantic proximity Read ↗

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).Semantic proximity Read ↗

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.Semantic proximity Read ↗

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.Semantic proximity Read ↗

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.Semantic proximity Read ↗

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.Semantic proximity Read ↗

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.Semantic proximity Read ↗

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).Semantic proximity Read ↗

Coffin-Lowry syndrome: clinical and molecular features.Semantic proximity Read ↗

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.Semantic proximity Read ↗

Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning.Semantic proximity Read ↗

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.