Linked Life Data

16926860

Source:http://linkedlifedata.com/resource/pubmed/id/16926860

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2006-12-14
pubmed:abstractText
The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick - Needles syndrome. The phenotype of these conditions in the male ranges from a severe perinatally lethal multiple malformation syndrome to a mild skeletal dysplasia. Most, but not all, instances of these conditions are associated by mutations in the X-linked gene encoding the cytoskeletal protein filamin A. Mutations in this gene are clustered, exhibit a strong genotype-phenotype correlation and are presumed to exert their effect by a gain-of-function mechanism.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3-9
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
pubmed:affiliation
Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand. stephen.robertson@stonebow.otago.ac.nz
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't