Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A.
Bonnard C, et al. Among authors: ghosh k.
Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30.
Eur J Med Genet. 2018.
PMID: 29605658