Associated Papers
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Thauvin-Robinet C et al.
Clinical Genetics, 2013
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL et al.
American Journal of Human Genetics, 2009
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