No abstract available
Keywords:
Kabuki syndrome; intestinal malrotation; lysine methyltransferase 2D (KMT2D); multiple morphological abnormalities; whole-exome sequencing.
MeSH terms
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Abnormalities, Multiple* / diagnosis
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Abnormalities, Multiple* / genetics
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Face
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Genomics
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Hematologic Diseases* / diagnosis
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Hematologic Diseases* / genetics
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Humans
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Infant
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Mutation
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Phenotype
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Vestibular Diseases* / diagnosis
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Vestibular Diseases* / genetics