No abstract available
Keywords:
Brachydactyly; CCNA2-CDK2; Intellectual disability; Retinitis pigmentosa; SCAPER.
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Carrier Proteins / genetics*
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Child
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Consanguinity
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DNA Mutational Analysis
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Female
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Genetic Association Studies* / methods
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Genetic Predisposition to Disease*
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Humans
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Male
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Middle Aged
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Mutation*
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Pedigree
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Phenotype*
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Young Adult
Substances
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Carrier Proteins
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SCAPER protein, human