Suggestions

Du même auteur

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Archive ouverte | Bahi-Buisson, Nadia | CCSD

International audience. GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities a...

LIS1-Related Isolated Lissencephaly. LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity

Archive ouverte | Saillour, Yoann | CCSD

International audience. Objective: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deleti...

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Archive ouverte | Zillhardt, Julia Lauer | CCSD

International audience

Chargement des enrichissements...