Linked Life Data

12784297

Source:http://linkedlifedata.com/resource/pubmed/id/12784297

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2003-6-4
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
119A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
302-4
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.
pubmed:affiliation
Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California 92103-8446, USA. klyons@ucsd.edu
pubmed:publicationType
Journal Article, Case Reports