Coffin-Lowry Syndrome (definition)

encyclopedia of medical concepts

ψ
ψ
ψ

Coffin-Lowry Syndrome

More information in Books or on

Definition: A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

See Also Ribosomal Protein S6 Kinases

Other names Syndrome, Coffin-Lowry; Syndrome, Coffin; Coffin Lowry Syndrome; Mental Retardation with Osteocartilaginous Abnorma; Coffin Syndrome

Substance	CAS Registry & name	Categories	Source
ribosomal protein S6 kinase, 90kDa, polypeptide 3	EC 2.7.11.1	*Ribosomal Protein S6 Kinases, 90-kDa MAP Kinase Signaling System Coffin-Lowry Syndrome.	Proc Natl Acad Sci USA 1991;88(11):4981

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link

Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor

We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy