Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

Posted on Posted in AMRC Research

Date: 08 Dec 2012


Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations.


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