| Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. | |
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MedLine Citation:
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PMID: 10731087 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations of the fibroblast growth factor receptors (FGFRs) cause several dominantly inherited congenital skeletal disorders and syndromes. Recently, these mutations have been suggested to cause either ligand-independent activation of the receptor or a dominant negative inactivation. The analysis of two Japanese patients with Pfeiffer syndrome and postaxial polydactyly of the hand now shows that both carried the same 1119-2A-to-G transition of the FGFR2 gene and this nonsense mutation caused skipping of exon 9(B) and haploinsufficiency of FGFR2. |
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Authors:
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M Tsukuno; H Suzuki; Y Eto |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of craniofacial genetics and developmental biology Volume: 19 ISSN: 0270-4145 ISO Abbreviation: J. Craniofac. Genet. Dev. Biol. Publication Date: 1999 Oct-Dec |
Date Detail:
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Created Date: 2000-04-13 Completed Date: 2000-04-13 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8109845 Medline TA: J Craniofac Genet Dev Biol Country: DENMARK |
Other Details:
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Languages: eng Pagination: 183-8 Citation Subset: IM |
Affiliation:
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The Institute of DNA Medicine, Department of Plastic and Reconstructive Surgery, The Jikei University School of Medicine, Tokyo, Japan. marit@jikei.ac.jp |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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etiology,
genetics* Exons / genetics Female Foot Deformities / genetics Hand Deformities / genetics Humans Infant, Newborn Male Mutation* Polydactyly / genetics RNA Splicing / genetics Receptor Protein-Tyrosine Kinases / genetics* Receptor, Fibroblast Growth Factor, Type 2 Receptors, Fibroblast Growth Factor / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Fibroblast Growth Factor; EC 2.7.1.112/FGFR2 protein, human; EC 2.7.10.1/Receptor Protein-Tyrosine Kinases; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
| Comments/Corrections | |
Comment In:
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J Craniofac Genet Dev Biol. 2000 Apr-Jun;20(2):109-12
[PMID:
11100741
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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