AUTHOR=Scoppettuolo Pasquale , Ligot Noémie , Wermenbol Vanessa , Van Bogaert Patrick , Naeije Gilles 

TITLE=p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

JOURNAL=Frontiers in Neurology

VOLUME=Volume 11 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.00827

DOI=10.3389/fneur.2020.00827

ISSN=1664-2295

ABSTRACT=We reported a COL4A1 gene variant, p.Gly743Val, responsible for familial porencephaly and severe hypermetropia. As for other COL4A1 mutation and families, this variant is segregated in an autosomal dominant manner and associated with variable expressivity.