Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
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منابع مشابه
Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.
W olcott-Rallison syndrome (OMIM 226980) is a rare autosomal recessive disorder characterised by permanent insulin requiring diabetes developing in the newborn period or early infancy, an early tendency to skeletal fractures, and spondyloepiphyseal dysplasia. The syndrome results from mutations in the gene encoding the eukaryotic translation initiation factor 2-a kinase 3 (EIF2AK3, also called ...
متن کاملLETTER TO JMG Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
W olcott-Rallison syndrome (OMIM 226980) is a rare autosomal recessive disorder characterised by permanent insulin requiring diabetes developing in the newborn period or early infancy, an early tendency to skeletal fractures, and spondyloepiphyseal dysplasia. The syndrome results from mutations in the gene encoding the eukaryotic translation initiation factor 2-a kinase 3 (EIF2AK3, also called ...
متن کاملWolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation
©Jo ur nal of Cli ni cal Re se arch in Pe di at ric En doc ri no logy, Pub lis hed by Ga le nos Pub lis hing. Dear Editor, Wolcott-Rallison syndrome (WRS; Online Mendelian Inheritance in Man 226980) is an autosomal recessively inherited disorder characterized by neonatal insulin-dependent diabetes mellitus, skeletal dysplasia (epiphyseal dysplasia), acute hepatic and/or renal dysfunction, exocr...
متن کاملKetoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome
BACKGROUND Neonatal diabetes mellitus is a rare condition and it is important to differentiate it from other causes, such as hyperglycemia in infancy, for better outcomes. We report a case of an infant who presented to our neonatal intensive care unit in ketoacidosis and a comatose state. CASE REPORT Our case was an infant who presented to the neonatal intensive care unit at 38 days of age in k...
متن کاملNeonatal diabetes in Wolcott–Rallison syndrome: a case report
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. In the present study, we analyzed the EIF2AK3 gene in a 64 day-old-girl WRS patient and his parents to study the cli...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.9.685