Please use this identifier to cite or link to this item: https://ir.swu.ac.th/jspui/handle/123456789/15325
ชื่อเรื่อง: Williams syndrome and the Elastin gene in Thai patients
ผู้แต่ง: Ruangdaraganon N.
Tocharoentanaphol C.
Kotchabhakdi N.
Khowsathit P.
วันที่เผยแพร่: 1999
บทคัดย่อ: Williams syndrome (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning disability, loquacious personality, and supravalvular aortic stenosis. The etiology is now known to be due to deletion of the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had bilateral sensorineural hearing loss, which to our knowledge, has never been reported.
URI: https://ir.swu.ac.th/jspui/handle/123456789/15325
https://www.scopus.com/inward/record.uri?eid=2-s2.0-28144462446&partnerID=40&md5=76f4aac219aff9f0f35b61ace00e7d66
ISSN: 1252208
Appears in Collections:Scopus 1983-2021

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