No abstract available
Keywords:
Dorfman-Chanarin syndrome; Genotype–phonotype correlation; Ichthyosis; Liver dysfunction; Mental retardation.
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
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Adult
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Alternative Splicing
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Brain / metabolism
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DNA Mutational Analysis
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Exons*
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Homozygote
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Humans
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Ichthyosiform Erythroderma, Congenital / diagnosis*
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Ichthyosiform Erythroderma, Congenital / genetics*
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Intellectual Disability / genetics
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Lipid Metabolism, Inborn Errors / diagnosis*
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Lipid Metabolism, Inborn Errors / genetics*
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Male
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Muscular Diseases / diagnosis*
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Muscular Diseases / genetics*
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Mutation*
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RNA / metabolism
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RNA Splice Sites*
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RNA, Messenger / metabolism
Substances
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RNA Splice Sites
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RNA, Messenger
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RNA
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1-Acylglycerol-3-Phosphate O-Acyltransferase
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ABHD5 protein, human
Supplementary concepts
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Chanarin-Dorfman Syndrome