Associated Papers
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Chinen Y et al.
Human Genome Variation, 2022
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
Shylo NA et al.
Human Mutation, 2016
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Lambacher NJ et al.
Nature Cell Biology, 2016
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