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
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
Hoffer JL et al.
Clinical Genetics, 2013
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Mill P et al.
American Journal of Human Genetics, 2011
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