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DIAZ-MEDINA, GLORIA
One or more keywords matched the following items that are connected to
DIAZ-MEDINA, GLORIA
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Concept
Megalencephaly
Academic Article
PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
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Megalencephaly