Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 4, Issue 2, 2012, Pages 101-103

  Mihçi, Ercan ^a   Türkkahraman, Doǧa ^b   Ellard, Sian ^c   Akçurin, Sema ^a   Bircan, Iffet ^a  

^a AKDENIZ UNIVERSITY   (Turkey)

^b Antalya EGitim Ve Arastirma Hastanesi Varlik Mahallesi Kazim Karabekir Caddesi SoGuksu   (Turkey)

^c UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

Neonatal diabetes; Skeletal dysplasia; Wolcott Rallison syndrome

Indexed keywords

EUKARYOTIC TRANSLATION INITIATION FACTOR 2ALPHA KINASE; INITIATION FACTOR; ISOPHANE INSULIN; PIG INSULIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; EXON; FEMUR FRACTURE; FOLLOW UP; GROWTH RETARDATION; HUMAN; INSULIN TREATMENT; LORDOSIS; MALE; NEWBORN; NEWBORN DIABETES MELLITUS; NONSENSE MUTATION; RARE DISEASE; WOLCOTT RALLISON SYNDROME;

EID: 84862835681     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/Jcrpe.619     Document Type: Article

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