| Robinow syndrome. | |
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MedLine Citation:
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PMID: 12011143 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase with orthologues in mouse and other species. The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2. |
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Authors:
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M A Patton; A R Afzal |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Journal of medical genetics Volume: 39 ISSN: 1468-6244 ISO Abbreviation: J. Med. Genet. Publication Date: 2002 May |
Date Detail:
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Created Date: 2002-05-15 Completed Date: 2002-05-28 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: England |
Other Details:
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Languages: eng Pagination: 305-10 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics*,
pathology Animals Arm / abnormalities, radiography Dwarfism / diagnosis*, genetics*, pathology Facies Genotype Humans Infant, Newborn Male Mice Mutation, Missense Penis / abnormalities Phenotype Rats Receptor Tyrosine Kinase-like Orphan Receptors Receptors, Cell Surface / genetics Ribs / abnormalities, radiography Spinal Cord / abnormalities, radiography Syndrome |
| Chemical | |
Reg. No./Substance:
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0/ROR2 protein, human; 0/Receptors, Cell Surface; EC 2.7.10.1/Receptor Tyrosine Kinase-like Orphan Receptors |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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