title: Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation.
authors.affiliation: Ankara Pediatric Hematology-Oncology Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey, Phone: +90 312 596 96 65 E-mail: fggurbuz@yahoo.com.
authors.forename: Fatih
authors.initials: F
authors.lastname: Gürbüz
authors.forename: Bilgin
authors.initials: B
authors.lastname: Yüksel
authors.forename: Ali Kemal
authors.initials: AK
authors.lastname: Topaloğlu
mesh_terms: D001851:Bone Diseases, Metabolic / Q000150:complications / Q000175:diagnosis; D018389:Codon, Nonsense; D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004838:Epiphyses / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010290:Parents; D010375:Pedigree; D019892:eIF-2 Kinase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C460640:EIF2AK3 protein, human; D019892:eIF-2 Kinase