Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2015)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
J Med Genet
, 52
(3)
147 - 156.
10.1136/jmedgenet-2014-102691.
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Abstract
Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy phenotypes. Using a next-generation sequencing approach, we identified mutations in a novel centriolar disease gene in a kindred with an embryonic lethal ciliopathy phenotype and in a patient with primary microcephaly.
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