Linked Life Data

17825514

Source:http://linkedlifedata.com/resource/pubmed/id/17825514

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2008-2-25
pubmed:abstractText
The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX3, GLI2, and TGIF. This boy presented a p.K44N (c.132G>T) mutation in exon 2 of the TGIF gene which was inherited from his phenotypically normal mother. This mutation leads to lysine to arginine amino acid change and is predicted to be a damaging mutation. Clinical aspects involving variable phenotypical manifestations in different mutations of TGIF are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
203-5
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Variable phenotypic manifestations of a K44N mutation in the TGIF gene.
pubmed:affiliation
Departamento de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Rua Silvio Marchioni 320, CEP 17012-900, Bauru, SP, Brazil. richieri@usp.br
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't