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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2006-3-27
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pubmed:abstractText |
The PITX3 gene, which codes for a homeobox bicoidlike transcription factor is responsible for dominant cataract and anterior segment mesenchymal dysgenesis in humans. In the current study, a family with autosomal dominant posterior polar cataract (PPC) and a PITX3 mutation that cosegregates with the disease was examined. Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0146-0404
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1274-80
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:16565358-Cataract,
pubmed-meshheading:16565358-Chromosomes, Human, Pair 10,
pubmed-meshheading:16565358-Consanguinity,
pubmed-meshheading:16565358-DNA Mutational Analysis,
pubmed-meshheading:16565358-Female,
pubmed-meshheading:16565358-Genetic Linkage,
pubmed-meshheading:16565358-Haplotypes,
pubmed-meshheading:16565358-Heterozygote,
pubmed-meshheading:16565358-Homeodomain Proteins,
pubmed-meshheading:16565358-Homozygote,
pubmed-meshheading:16565358-Humans,
pubmed-meshheading:16565358-Lebanon,
pubmed-meshheading:16565358-Lod Score,
pubmed-meshheading:16565358-Male,
pubmed-meshheading:16565358-Microphthalmos,
pubmed-meshheading:16565358-Mutation,
pubmed-meshheading:16565358-Nervous System Diseases,
pubmed-meshheading:16565358-Pedigree,
pubmed-meshheading:16565358-Transcription Factors
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pubmed:year |
2006
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pubmed:articleTitle |
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
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pubmed:affiliation |
Health Research and Education Center, Washington State University Spokane, Spokane, Washington, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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