title: Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.
authors.affiliation: Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.|Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Jumana Yousuf
authors.initials: JY
authors.lastname: Al-Aama
authors.affiliation: Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Hams Saeed
authors.initials: HS
authors.lastname: Al-Zahrani
authors.affiliation: Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Musharraf
authors.identifier: http://orcid.org/0000-0002-3421-0079
authors.initials: M
authors.lastname: Jelani
authors.affiliation: Pediatric Radiology Unit, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
authors.forename: Hesham Salih
authors.initials: HS
authors.lastname: Sabir
authors.affiliation: Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
authors.forename: Saad Abdullah
authors.initials: SA
authors.lastname: Al-Saeedi
authors.affiliation: Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.|Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: Saleem
authors.initials: S
authors.lastname: Ahmed
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004838:Epiphyses / Q000002:abnormalities* / Q000473:pathology; D005091:Exons; D005260:Female; D015870:Gene Expression; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012529:Saudi Arabia; D019892:eIF-2 Kinase / Q000235:genetics*
chemical_list: C460640:EIF2AK3 protein, human; D019892:eIF-2 Kinase