| Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I. | |
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MedLine Citation:
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PMID: 21524721 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Sparse scalp hair, a peculiar shape of the nose, and cone-shaped epiphyses of the phalanges are the hallmarks of the tricho-rhino-phalangeal syndromes (TRPS). Short stature, hip dysplasia, and malformations of inner organs including mitral valve prolpase have also often been described for these conditions. Here, we described a 64-year-old woman with molecularly proved TRPS I and several atypical late-onset rheumatologic and neurological symptoms. |
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Authors:
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Marjory Rué; Hermann-Josef Lüdecke; Igor Sibon; Christophe Richez; Laurence Taine; Alexandra Foubert-Samier; Benoit Arveiler; Thierry Schaeverbeke; Didier Lacombe; François Tison; Cyril Goizet |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-15 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Masson SAS. |
Affiliation:
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Pôle des Neurosciences Cliniques, Groupe hospitalier Sud, CHU Bordeaux, Pessac, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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