Article
A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Değerliyurt A, Ceylaner G, Koçak H, Bilginer Gürbüz B, Cihan B S, Rizzu P, Ceylaner S
Abstract excerpt
Porencephaly is an extensively encountered condition in pediatric neurology practice and leads to serious morbidity with its complications. Important etiological factors are trauma, hemorrhage, infection and thrombophilic factors that may cause destruction in the developing brain. Col4A1 mutations were also shown in familial porencephaly cases. We describe two siblings with porencephaly, hemiparesis, epilepsy,...
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