Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

ConclusionWe suggest that COL4A1 testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 16, 2016 Category: Perinatology & Neonatology Authors: Robert Smigiel, Magdalena Cabala, Aleksandra Jakubiak, Hirofumi Kodera, Marek J. Sasiadek, Naomichi Matsumoto, Maria M. Sasiadek, Hirotomo Saitsu Tags: Brief Report Source Type: research