Variant: rs781752990 

    present in Gene: KIF7
    present in Chromosome: 15
    Position on Chromosome: 89652601
    Alleles of this Variant: A/C

rs781752990 in KIF7 gene and Dysmorphic features PMID 23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

PMID 9066878 1997 Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

PMID 22587682 2012 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

PMID 25714560 2015 A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

PMID 14738752 2004 Hedgehog signaling: Costal-2 bridges the transduction gap.

PMID 7424976 1980 Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

rs781752990 in KIF7 gene and Multiple congenital anomalies PMID 25714560 2015 A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

PMID 9066878 1997 Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

PMID 7424976 1980 Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

PMID 23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

PMID 14738752 2004 Hedgehog signaling: Costal-2 bridges the transduction gap.

PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

PMID 22587682 2012 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.