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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...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Young Mi Park, Yoon-Myung Kim, Seong Hee Oh, Hyun-Seung Jin
Формат: Artigo
Хэл сонгох:Inglês
Хэвлэсэн: Korean Society of Neonatology 2023-05-01
Цуврал:Neonatal Medicine
Нөхцлүүд:
Онлайн хандалт:http://neo-med.org/upload/pdf/nm-2023-30-2-55.pdf
Шошгууд: Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!