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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2010-5-10
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pubmed:abstractText |
A 15-year-old boy with developmental delay presented to the pediatric ophthalmology clinic with bilateral pulverulent cataracts. The family was examined for developmental delay, cataracts and systemic problems.
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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 |
Jun
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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 |
73-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:20450308-Adolescent,
pubmed-meshheading:20450308-Cataract,
pubmed-meshheading:20450308-Consanguinity,
pubmed-meshheading:20450308-Cytochrome P-450 CYP27A1,
pubmed-meshheading:20450308-DNA Mutational Analysis,
pubmed-meshheading:20450308-Developmental Disabilities,
pubmed-meshheading:20450308-Functional Laterality,
pubmed-meshheading:20450308-Genes, Recessive,
pubmed-meshheading:20450308-Genetic Linkage,
pubmed-meshheading:20450308-Germ-Line Mutation,
pubmed-meshheading:20450308-Humans,
pubmed-meshheading:20450308-Male,
pubmed-meshheading:20450308-Microsatellite Repeats,
pubmed-meshheading:20450308-Mutation, Missense,
pubmed-meshheading:20450308-Pedigree,
pubmed-meshheading:20450308-RNA Splice Sites,
pubmed-meshheading:20450308-Xanthomatosis, Cerebrotendinous
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pubmed:year |
2010
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pubmed:articleTitle |
Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.
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pubmed:affiliation |
Department of Ophthalmology, Barts and the London NHS Trust, London, UK. rbourkiza@doctors.org.uk
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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