Associated Papers
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Inskeep KA et al.
American Journal of Medical Genetics. Part A, 2022
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.
Faudi E et al.
European Journal of Medical Genetics, 2020
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A et al.
Scientific Reports, 2017
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