Linked Life Data

19615760

Source:http://linkedlifedata.com/resource/pubmed/id/19615760

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2011-4-8
pubmed:abstractText
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same family. Clinical features are due to altered formation of pendrin, a chloride/iodide transporter protein expressed in the inner ear, thyroid gland and kidney. A novel substitution was found in exon 7 of the pendrin encoding gene (SLC26A4) that leads to a stop codon, S314X. The new variation was found in compound heterozygosity with L445W mutation in a hearing impaired patient with bilateral Mondini's dysplasia and goitre.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1872-8464
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1458-63
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
pubmed:affiliation
Servizio di Audiologia e Foniatria, Dipartimento Specialità Medico-Chirurgiche, University of Padua, Via Giustiniani, 2, 35128 Padova, Italy. elona.cama@unipd.it
pubmed:publicationType
Journal Article, Case Reports