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

2012171 citationsJournal Article

Authors

Yuriko Yoneda · Yokohama City University

Kazuhiro Haginoya · Center for Children

Mitsuhiro Kato · Yamagata University

Hitoshi Osaka · Clinical Research Institute

Kenji Yokochi · Seirei Mikatabara General Hospital

Hiroshi Arai · Morinomiya Hospital

Akiyoshi Kakita ·

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.

Topics & Keywords

Cell Adhesion Molecules Research RNA regulation and disease Cellular transport and secretion

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Neurology

Volume 73, Issue 1, pp. 48-57

DOI: 10.1002/ana.23736

Field-Weighted Citation Impact: 5.38