No abstract available
MeSH terms
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3-Hydroxysteroid Dehydrogenases / genetics*
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Codon, Nonsense*
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DNA Mutational Analysis
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Female
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Humans
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Ichthyosis / genetics
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Ichthyosis / pathology
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Infant
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Nevus / congenital
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Nevus / genetics*
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Syndrome
Substances
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Codon, Nonsense
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3-Hydroxysteroid Dehydrogenases
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Nsdhl protein, human