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ENG, CHRISTINE
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ENG, CHRISTINE
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Academic Article
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
Academic Article
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
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Megalencephaly
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Megalencephaly