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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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Hlavní autoři: Young Mi Park, Yoon-Myung Kim, Seong Hee Oh, Hyun-Seung Jin
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Society of Neonatology 2023-05-01
Edice:Neonatal Medicine
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On-line přístup:http://neo-med.org/upload/pdf/nm-2023-30-2-55.pdf
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