No abstract available
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
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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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Amino Acid Substitution
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Brain / pathology
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Child, Preschool
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Developmental Disabilities / genetics
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Developmental Disabilities / pathology
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Female
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Hair Diseases / genetics
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Hair Diseases / pathology
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Humans
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Ichthyosiform Erythroderma, Congenital / genetics
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Ichthyosiform Erythroderma, Congenital / pathology*
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Magnetic Resonance Imaging
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Nervous System Diseases / genetics
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Nervous System Diseases / pathology
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Photosensitivity Disorders / genetics
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Photosensitivity Disorders / pathology
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Trichothiodystrophy Syndromes / genetics
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Trichothiodystrophy Syndromes / pathology*
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Xeroderma Pigmentosum Group D Protein / genetics
Substances
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Xeroderma Pigmentosum Group D Protein
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ERCC2 protein, human