title: Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.
authors.affiliation: Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
authors.forename: Sami
authors.initials: S
authors.lastname: Bizzari
authors.affiliation: Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
authors.forename: Abdul Rezzak
authors.initials: AR
authors.lastname: Hamzeh
authors.affiliation: Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nair
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
authors.forename: Madiha
authors.initials: M
authors.lastname: Mohamed
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
authors.forename: Fatma
authors.initials: F
authors.lastname: Bastaki
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014479:United Arab Emirates
chemical_list: D008565:Membrane Proteins; D022821:RNA Splice Sites; C570597:TMEM138 protein, human
keywords: 
  TMEM138
  ; Emirati family; Joubert syndrome; ciliopathy; splice-site mutation