X-Linked Lissencephaly with ARX Mutations, Abnormal Genitalia, and Corpus Callosum Agenesis

Abstract

The clinical and genetic findings of two X-linked lissencephaly with abnormal genitalia (XLAG) pedigrees with ARX mutations are reported from the University of Regensburg, Germany.

Keywords

• absent corpus callosum
• subependymal cysts
• thick cortex