Condition: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
rs886037892
in
CIT
gene and
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
PMID 27453579
2016 Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
PMID 27453578
2016 Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
PMID 27519304
2016 CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
PMID 27503289
2016 Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.