| Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency. | |
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MedLine Citation:
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PMID: 12784297 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Williams syndrome (WS) is due to a deletion in the WS critical region at 7q11.23 which includes the elastin gene (ELN). One of the most characteristic features of this disorder is a harsh, brassy, or hoarse voice but the etiology of the vocal characteristics are unknown. We report two patients with WS who had bilateral vocal cord abnormalities, bringing to four the number of children with WS in whom such defects have been documented. We suggest that vocal cord abnormalities may be a far more common feature of WS than has been previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition. |
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Authors:
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Keith K Vaux; Henry Wojtczak; Kurt Benirschke; Kenneth Lyons Jones |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 119A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Jun |
Date Detail:
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Created Date: 2003-06-04 Completed Date: 2004-02-03 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 302-4 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California 92103-8446, USA. klyons@ucsd.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Elastin / deficiency, genetics* Female Gene Deletion* Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Phenotype Vocal Cord Paralysis / genetics*, metabolism Vocal Cords / abnormalities*, pathology Williams Syndrome / genetics*, metabolism |
| Chemical | |
Reg. No./Substance:
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9007-58-3/Elastin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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