No abstract available
MeSH terms
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Blepharophimosis / genetics*
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Blepharophimosis / pathology
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Congenital Hypothyroidism / genetics*
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Congenital Hypothyroidism / pathology
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Exome Sequencing*
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Facies
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Frameshift Mutation*
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Heart Defects, Congenital / genetics*
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Heart Defects, Congenital / pathology
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Histone Acetyltransferases / genetics*
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Humans
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Infant, Newborn
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Intellectual Disability / genetics*
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Intellectual Disability / pathology
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Joint Instability / genetics*
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Joint Instability / pathology
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Male
Substances
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Histone Acetyltransferases
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KAT6B protein, human