No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnostic imaging*
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Abnormalities, Multiple / genetics
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Child, Preschool
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Codon, Nonsense
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DNA Mutational Analysis
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Exome
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Female
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Genetic Association Studies
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Heterozygote
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Humans
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Male
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Mandibulofacial Dysostosis / diagnostic imaging*
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Mandibulofacial Dysostosis / genetics
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Microcephaly / diagnostic imaging*
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Microcephaly / genetics
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Peptide Elongation Factors / genetics*
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Radiography
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Ribonucleoprotein, U5 Small Nuclear / genetics*
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Syndrome
Substances
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Codon, Nonsense
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EFTUD2 protein, human
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Peptide Elongation Factors
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Ribonucleoprotein, U5 Small Nuclear