Pasquale Scoppettuolo Noémie Ligot Vanessa Wermenbol Patrick Van Bogaert Gilles Naeije
10.3389/fneur.2020.00827
Front Neurol
2020 Sep 11;11:827.
col4a1 type iv collagen familial porencephaly ocular malformations variable expressivity
CC BY
https://pubmed.ncbi.nlm.nih.gov/33013618/
Case Reports
PMC7516025
33013618
p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia
2020