Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-1-31
pubmed:abstractText
Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies. This study examined the two genes known to cause Rieger syndrome, PITX2 and FOXC1, for mutations in five Brazilian families with Axenfeld-Rieger syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1057-0829
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
51-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:11821690-Brazil, pubmed-meshheading:11821690-Chromosomes, Human, Pair 4, pubmed-meshheading:11821690-Chromosomes, Human, Pair 6, pubmed-meshheading:11821690-Cornea, pubmed-meshheading:11821690-DNA Mutational Analysis, pubmed-meshheading:11821690-DNA Primers, pubmed-meshheading:11821690-DNA-Binding Proteins, pubmed-meshheading:11821690-Eye Abnormalities, pubmed-meshheading:11821690-Female, pubmed-meshheading:11821690-Forkhead Transcription Factors, pubmed-meshheading:11821690-Genetic Linkage, pubmed-meshheading:11821690-Genotype, pubmed-meshheading:11821690-Glaucoma, pubmed-meshheading:11821690-Homeodomain Proteins, pubmed-meshheading:11821690-Humans, pubmed-meshheading:11821690-Iris, pubmed-meshheading:11821690-Male, pubmed-meshheading:11821690-Mutation, pubmed-meshheading:11821690-Nuclear Proteins, pubmed-meshheading:11821690-Pedigree, pubmed-meshheading:11821690-Syndrome, pubmed-meshheading:11821690-Transcription Factors
pubmed:year
2002
pubmed:articleTitle
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
pubmed:affiliation
Department of Ophthalmology and Otorrinolaryngology, Glaucoma Service University of São Paulo, São Paulo, Brazil.
pubmed:publicationType
Journal Article