Condition: Acrocallosal Syndrome


rs138410949 in KIF7 gene and Acrocallosal Syndrome PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 26174511 2015 Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal 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 29321670 2018 Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

rs1567057019 in KIF7;TICRR gene and Acrocallosal Syndrome PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

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

PMID 19666503 2009 Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.

PMID 26648833 2015 Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs202195179 in TICRR;KIF7 gene and Acrocallosal Syndrome PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

PMID 26174511 2015 Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

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