No abstract available
MeSH terms
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Arteries / abnormalities
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Arteries / pathology
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Bone and Bones / abnormalities
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Bone and Bones / pathology
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Chromosome Mapping
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Connective Tissue Diseases / genetics
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Connective Tissue Diseases / pathology
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Contracture / genetics
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Contracture / pathology
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Exome
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Genes, Dominant
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Genes, Recessive
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Genetic Association Studies
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Humans
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Ichthyosis, Lamellar / genetics
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Keratosis / genetics*
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Keratosis / pathology
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Mutation
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Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / deficiency
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Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics
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Rupture, Spontaneous / genetics
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Rupture, Spontaneous / pathology
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Sequence Analysis, DNA
Substances
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Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
Supplementary concepts
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Bone Fragility with Contractures, Arterial Rupture, and Deafness