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.
Highlights
MRI showed lissencephaly, thick cortex, small basal ganglia, subependymal cysts, and absent corpus callosum (ACC) and septum pellucidum
X-LINKED LISSENCEPHALY WITH ARX MUTATIONS, ABNORMAL GENITALIA, AND CORPUS CALLOSUM AGENESIS
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
Summary
MRI showed lissencephaly, thick cortex, small basal ganglia, subependymal cysts, and absent corpus callosum (ACC) and septum pellucidum. X-LINKED LISSENCEPHALY WITH ARX MUTATIONS, ABNORMAL GENITALIA, AND CORPUS CALLOSUM AGENESIS 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. Case 1 index patient had multifocal clonic seizures at birth and later developed generalized tonic-clonic seizures refractory to treatment.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
