Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature

Pediatric Diabetes

Volumn 11, Issue 4, 2010, Pages 279-285

  Ozbek, M Nuri ^a   Senée, Valérie ^b   Aydemir, Sehnaz ^a   Kotan, L Damla ^a   Mungan, Neslihan O ^a   Yuksel, Bilgin ^a   Julier, Cécile ^b   Topaloglu, A Kemal ^a  

^a CUKUROVA UNIVERSITY   (Turkey)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Diabetes mellitus; EIF2AK3 gene; Epiphyseal dysplasia; Insulin dependent; WRS

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; EIF2AK3 GENE; EUTHYROID SICK SYNDROME; FEMALE; GENE; GENOTYPE; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; HYPOTHYROIDISM; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; KIDNEY FAILURE; LEARNING DISORDER; LIVER FAILURE; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEUTROPENIA; PANCREAS DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPONDYLOEPIPHYSEAL DYSPLASIA; WOLCOTT RALLISON SYNDROME;

DIABETES MELLITUS, TYPE 1; EIF-2 KINASE; EPIPHYSES; FATAL OUTCOME; FEMALE; HUMANS; HYPOTHYROIDISM; INFANT; LIVER FAILURE; MALE; NEUTROPENIA; OSTEOCHONDRODYSPLASIAS; PANCREAS, EXOCRINE; PEDIGREE; POINT MUTATION;

EID: 77954544750     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2009.00591.x     Document Type: Article

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