No abstract available
MeSH terms
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Adolescent
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Adult
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Alleles
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DNA Mutational Analysis
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Dwarfism / diagnosis*
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Dwarfism / genetics*
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Facies
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Fetal Growth Retardation / diagnosis*
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Fetal Growth Retardation / genetics*
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Genotype
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Humans
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Male
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Microcephaly / diagnosis*
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Microcephaly / genetics*
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Mutation*
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Osteochondrodysplasias / diagnosis*
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Osteochondrodysplasias / genetics*
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Phenotype*
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RNA, Small Nuclear / genetics*
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Siblings*
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Young Adult
Substances
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RNA, Small Nuclear
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RNU4ATAC RNA, human
Supplementary concepts
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Microcephalic osteodysplastic primordial dwarfism, type 1