2019•The American Journal of Human GeneticsOpen access

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

Ranad Shaheen, Nan Jiang, Fatema Alzahrani, Nour Ewida, Tarfa Al‐Sheddi, Eman Alobeid, Damir Musaev, Valentina Stanley, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Abduljabbar Alshenqiti, Fatma Müjgan Sönmez, Nadia Saqati, Hamad Alzaidan, Mohammad Manna Al-Qattan, Futwan A Al-Mohanna, Joseph G. Gleeson, Fowzan Sami Alkuraya

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Key concepts: Ciliopathy, Ciliopathies, Joubert syndrome, Cilium, Biology, Ciliogenesis, Polydactyly, Exome sequencing