A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

Collagen type IV alpha 1 (COL4A1) plays an important role in construction of the basement membranes of all human tissues, especially vessels. Mutations in COL4A1 lead to various multisystemic dysfunctions, including hereditary porencephaly, hemorrhagic stroke, hemiplegia, cerebral small vessel disea...

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Bibliographic Details
Main Authors: Jihyun Noh, Euiseok Jung, Ah Young Jung, Beom Hee Lee, Byong Sop Lee, Ellen Ai-Rhan Kim, Ki-Soo Kim
Format: Article
Language:English
Published: Korean Society of Neonatology 2020-02-01
Series:Neonatal Medicine
Subjects:
cerebrovascular disorders
collagen
genetics
hemorrhage
stroke
Online Access:http://www.neo-med.org/upload/pdf/nm-2020-27-1-16.pdf

Internet

http://www.neo-med.org/upload/pdf/nm-2020-27-1-16.pdf

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