Associated Papers
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Inskeep KA et al.
American Journal of Medical Genetics. Part A, 2022
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A et al.
Scientific Reports, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J et al.
Human Genetics, 2017
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
Chevrier V et al.
Human Molecular Genetics, 2016
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