Variant: rs104894779 

    present in Gene: DCX
    present in Chromosome: X
    Position on Chromosome: 111410215
    Alleles of this Variant: C/T

rs104894779 in DCX gene and Lissencephaly, X-Linked, 1 PMID 9489699 1998 A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.

PMID 11601509 2001 Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.

PMID 9618162 1998 doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

PMID 27292316 2016 A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

PMID 10807542 2000 Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.

PMID 11175293 2001 Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

PMID 10369164 1999 A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

PMID 9489700 1998 Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

PMID 9668176 1998 Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

PMID 11468322 2001 Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.

PMID 12390976 2002 Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 9989615 1999 Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

PMID 12552055 2003 Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.