Article
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
Journal of medical genetics - 1 Mar 1997
des Portes V, Pinard J M, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard M L, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet M C, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J
Abstract excerpt
X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males, and subcortical laminar heterotopia (SCLH) associated with milder mental retardation and epilepsy in heterozygous females. Here we report an exclusion mapping study carried out in...
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