Linked Life Data

17049623

Source:http://linkedlifedata.com/resource/pubmed/id/17049623

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2006-12-25
pubmed:abstractText
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing loss and renal anomalies. Recent advances in molecular genetics have shown a human homologue of the Drosophila 'eyes absent' gene (EYA1) on chromosome band 8q13.3 to be the most common cause of BOR syndrome. Several mutations have been identified in the EYA1 gene in patients with BOR syndrome worldwide. Here, we report a second Korean family with BOR syndrome with a novel nonsense EYA1 mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0165-5876
pubmed:author
pubmed:issnType
Print
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
169-74
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.
pubmed:affiliation
Department of Otolaryngology, College of Medicine, Kyungpook National University, Daegu, Republic of Korea.
pubmed:publicationType
Journal Article, Case Reports