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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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology*
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Base Sequence
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Biopsy
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Chromosomes, Human, Pair 3 / genetics*
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Eye Abnormalities / genetics*
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Eye Abnormalities / pathology*
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Fatal Outcome
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Germany
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Haplotypes / genetics
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Humans
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Kidney / pathology
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Laminin / genetics
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Laminin / metabolism
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Male
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Molecular Sequence Data
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Myasthenic Syndromes, Congenital
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Nephrotic Syndrome
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Phenotype*
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Pupil Disorders / genetics*
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Pupil Disorders / pathology*
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Sequence Analysis, DNA
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Uniparental Disomy / genetics*