No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Arnold-Chiari Malformation / etiology
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Arnold-Chiari Malformation / genetics*
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Exome*
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Eye / pathology*
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Genome, Human
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Hearing Loss / etiology
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Hearing Loss / genetics*
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Humans
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Infant
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Leber Congenital Amaurosis / etiology
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Leber Congenital Amaurosis / genetics*
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Mutation*
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Peroxisomal Disorders / complications
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Peroxisomal Disorders / genetics*
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Phenotype
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Sequence Analysis, DNA / methods
Supplementary concepts
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Peroxisome biogenesis disorders