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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2010-2-9
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pubmed:abstractText |
To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (alphaB-crystallin) in both retina and the lens.
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pubmed:commentsCorrections |
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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 |
Mar
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pubmed:issn |
1744-5094
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
31
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
30-6
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pubmed:dateRevised |
2010-5-11
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pubmed:meshHeading |
pubmed-meshheading:20141356-Adolescent,
pubmed-meshheading:20141356-Adult,
pubmed-meshheading:20141356-Aphakia, Postcataract,
pubmed-meshheading:20141356-Cataract,
pubmed-meshheading:20141356-Cataract Extraction,
pubmed-meshheading:20141356-Child,
pubmed-meshheading:20141356-Consanguinity,
pubmed-meshheading:20141356-Electroretinography,
pubmed-meshheading:20141356-Female,
pubmed-meshheading:20141356-Genes, Recessive,
pubmed-meshheading:20141356-Humans,
pubmed-meshheading:20141356-Infant,
pubmed-meshheading:20141356-Male,
pubmed-meshheading:20141356-Middle Aged,
pubmed-meshheading:20141356-Mutation, Missense,
pubmed-meshheading:20141356-Pedigree,
pubmed-meshheading:20141356-Polymorphism, Single Nucleotide,
pubmed-meshheading:20141356-Prospective Studies,
pubmed-meshheading:20141356-Retinal Degeneration,
pubmed-meshheading:20141356-Visual Acuity,
pubmed-meshheading:20141356-alpha-Crystallin B Chain
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pubmed:year |
2010
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pubmed:articleTitle |
Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).
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pubmed:affiliation |
King Khaled Eye Specialist Hospital, Pediatric Ophthalmology, Riyadh, Saudi Arabia. arif.khan@mssm.edu
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pubmed:publicationType |
Journal Article
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