No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Alleles
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Base Sequence
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Cause of Death
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Child
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Child, Preschool
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Consanguinity
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DNA Helicases / genetics*
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DNA Mutational Analysis
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Female
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Gene Deletion
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Genotype
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Humans
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Infant
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Longevity / genetics*
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Male
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Osteochondrodysplasias / genetics*
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Osteochondrodysplasias / physiopathology*
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Pedigree
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Phenotype
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Survival Analysis
Substances
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SMARCAL1 protein, human
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DNA Helicases