Orofaciodigital syndrome 06

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Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Lopez E et al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.

Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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