No abstract available
MeSH terms
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Abnormalities, Multiple*
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Atrophy
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DNA Mutational Analysis
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Female
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Genetic Diseases, X-Linked / diagnosis
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / pathology
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Genetic Diseases, X-Linked / therapy
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Genetic Predisposition to Disease
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Humans
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Infant
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Lyases / genetics*
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Microphthalmos / diagnosis
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Microphthalmos / genetics*
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Microphthalmos / pathology
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Microphthalmos / therapy
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Mutation*
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Phenotype
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Skin / pathology*
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Skin Abnormalities / diagnosis
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Skin Abnormalities / genetics*
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Skin Abnormalities / pathology
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Skin Abnormalities / therapy
Substances
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Lyases
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cytochrome C synthetase
Supplementary concepts
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Microphthalmia, syndromic 7