Associated Papers
The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
Miro-dependent mitochondrial pool of CENP-F and its farnesylated C-terminal domain are dispensable for normal development in mice.
Peterka M et al.
Plos Genetics, 2019
A further family of Stromme syndrome carrying CENPF mutation.
Ozkinay F et al.
American Journal of Medical Genetics. Part A, 2017
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I et al.
Human Mutation, 2016
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM et al.
Journal of Medical Genetics, 2015
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