Associated Papers
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
Smith C et al.
American Journal of Medical Genetics. Part A, 2016
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Caparrós-Martín JA et al.
Human Molecular Genetics, 2015
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
Hoffer JL et al.
Clinical Genetics, 2013
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