Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Zanni, Ginevra

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. [electronic resource] - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Jul 2013 - 361-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1532-2130

10.1016/j.ejpn.2012.12.006 doi


Animals
Child, Preschool
Computational Biology
DNA Mutational Analysis
Female
Humans
Lissencephaly--complications
Magnetic Resonance Imaging
Malformations of Cortical Development--complications
Models, Molecular
Mutation--genetics
Tubulin--genetics