| Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. | |
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MedLine Citation:
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PMID: 19293680 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde syndrome, hypomandibular faciocranial syndrome, and craniorhiny). Five of these syndromes are caused by fibroblast growth factor receptor (FGFR) mutations; one is caused by ras-like in rat brain 23 (RAB23) mutations; and three have Mendelian patterns of inheritance, but the molecular basis remains unknown to date. |
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Authors:
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M Michael Cohen |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Journal of craniofacial surgery Volume: 20 Suppl 1 ISSN: 1536-3732 ISO Abbreviation: J Craniofac Surg Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-03-18 Completed Date: 2009-10-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9010410 Medline TA: J Craniofac Surg Country: United States |
Other Details:
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Languages: eng Pagination: 646-51 Citation Subset: D |
Affiliation:
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Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada. michael.cohen@dal.ca |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cranial Sutures
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anatomy & histology,
pathology Craniosynostoses / classification, genetics*, pathology* Genes, Dominant Genes, Recessive Humans Mutation Polymorphism, Single Nucleotide Receptors, Fibroblast Growth Factor / genetics Syndrome rab GTP-Binding Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Fibroblast Growth Factor; EC 3.6.1.-/RAB23 protein, human; EC 3.6.1.-/rab GTP-Binding Proteins |
| Comments/Corrections | |
Erratum In:
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J Craniofac Surg. 2009 Sep;20(5):1629-30 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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