Linked Life Data

15150774

Source:http://linkedlifedata.com/resource/pubmed/id/15150774

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-5-19
pubmed:abstractText
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families.
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 2004 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
127A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
244-8
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
pubmed:affiliation
School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, England. jill.dixon@man.ac.uk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't