Phenotypic Spectrum of <i>COL4A1</i> Mutations: Porencephaly to Schizencephaly

Abstract

Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. Based on the finding that COL4A1 mutations were frequent in patients with porencephaly and schizencephaly, genetic testing for COL4A1 should be considered for children with these conditions.