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

• Main Authors: Jihyun Noh (Author), Euiseok Jung (Author), Ah Young Jung (Author), Beom Hee Lee (Author), Byong Sop Lee (Author), Ellen Ai-Rhan Kim (Author), Ki-Soo Kim (Author)
• Format: Book
• Published: Korean Society of Neonatology, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...