| Coffin-Lowry syndrome. | |
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MedLine Citation:
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PMID: 19888300 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation. |
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Authors:
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Patricia Marques Pereira; Anne Schneider; Solange Pannetier; Delphine Heron; André Hanauer |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2009-11-04 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 18 ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-21 Completed Date: 2010-09-08 Revised Date: 2011-07-28 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 627-33 Citation Subset: IM |
Affiliation:
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Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, Strasbourg, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Bone Diseases, Developmental / diagnosis, epidemiology, genetics Coffin-Lowry Syndrome / diagnosis*, epidemiology, genetics* Humans Male Models, Biological Ribosomal Protein S6 Kinases, 90-kDa / genetics, physiology |
| Chemical | |
Reg. No./Substance:
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EC 2.7.11.1/Ribosomal Protein S6 Kinases, 90-kDa; EC 2.7.11.1/ribosomal protein S6 kinase, 90kDa, polypeptide 3 |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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