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
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J et al.
Human Genetics, 2017
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