No abstract available
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics*
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Cataract / diagnosis
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Cataract / genetics*
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Coloboma / diagnosis
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Coloboma / genetics*
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Facies
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Genetic Testing / methods*
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Genetic Testing / standards
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Kyphosis / diagnosis
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Kyphosis / genetics*
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Membrane Proteins / genetics*
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Mutation
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Phenotype
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Sensitivity and Specificity
Substances
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Membrane Proteins
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3-Oxo-5-alpha-Steroid 4-Dehydrogenase
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SRD5A3 protein, human