title: A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
authors.affiliation: Department of Medical Genetics, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan. tkaname@med.u-ryukyu.ac.jp
authors.forename: Tadashi
authors.initials: T
authors.lastname: Kaname
authors.forename: Kumiko
authors.initials: K
authors.lastname: Yanagi
authors.forename: Kenji
authors.initials: K
authors.lastname: Naritomi
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities; D059472:Exome; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis*; D008297:Male; D012160:Retina / Q000002:abnormalities; D017422:Sequence Analysis, DNA