The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL
J Med Genet. 2015 52 (3): 147-56

PMID: 25564561 · PMCID: PMC4345935 · DOI:10.1136/jmedgenet-2014-102691

MeSH Terms (20)

Animals Centrioles Chromosomal Proteins, Non-Histone Cilia Exome Female Fetus Genetics, Medical HEK293 Cells High-Throughput Nucleotide Sequencing Humans Male Mice Microcephaly Microfilament Proteins Mutation NIH 3T3 Cells Pedigree Pregnancy Zebrafish

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