Coffin-Lowry syndrome

Known as: Coffin-Lowry Syndrome [Disease/Finding], Syndrome, Coffin-Lowry, Mental Retardation with Osteocartilaginous Abnormalities 
A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1975-2018
051019752018

Papers overview

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2010
2010
Coffin-Lowry Syndrome (CLS) is an X-linked genetic disorder associated with cognitive and behavioural impairments. CLS patients… (More)
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Highly Cited
2004
Highly Cited
2004
Coffin-Lowry Syndrome (CLS) is an X-linked mental retardation condition associated with skeletal abnormalities. The gene mutated… (More)
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2004
2004
Coffin-Lowry syndrome (CLS) is a rare but well-documented X-linked disorder characterized by small size, developmental delay… (More)
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2003
2003
Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in two unrelated patients with… (More)
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2001
2001
BACKGROUND Gene expression and protein synthesis, mediated by the transcription factor CREB (cAMP response element binding… (More)
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2001
2001
RSK2 is a growth factor-regulated serine-threonine protein kinase, acting in the Ras-Mitogen-Activated Protein Kinase (MAPK… (More)
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2000
2000
OBJECTIVE: To promote the diffusion of the knowledge on the Coffin-Lowry syndrome and to contribute to the outline of the disease… (More)
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1988
1988
The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The… (More)
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1988
1988
Coffin-Lowry syndrome is an X-linked recessive syndrome of mental retardation, characteristic facies and skeletal anomalies. In… (More)
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1975
1975
Eight patients in three families had mental retardation, characteristic facies and hands, and skeletal changes; the clinical… (More)
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