Condition: Ectopic Tissue
rs113994198 in
PAFAH1B1 gene and
Ectopic Tissue
PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.
PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.