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A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with Mutation

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP is related to a somatic mosaic mutation in the phosphatidyl...

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Principais autores: Young Mi Park, Yoon-Myung Kim, Seong Hee Oh, Hyun-Seung Jin
פורמט: Artigo
שפה:Inglês
יצא לאור: Korean Society of Neonatology 2023-05-01
סדרה:Neonatal Medicine
נושאים:
pik3ca
megalencephaly
cutaneous vascular malformation
polymicrogyria
גישה מקוונת:http://neo-med.org/upload/pdf/nm-2023-30-2-55.pdf
תגים: הוספת תג
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