Article
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Neurology - 31 Jul 2007
Uyanik G, Morris-Rosendahl D J, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke G C, Schreyer I, Hertzberg C, Neumann T E, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright M L, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J
Abstract excerpt
BACKGROUND: Lissencephaly is a neuronal migration disorder leading to absent or reduced gyration and a broadened but poorly organized cortex. The most common form of lissencephaly is isolated, referred as classic or type 1 lissencephaly. Type 1 lissencephaly is mostly associated with a heterozygo...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
