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A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
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GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
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