EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Ra...
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
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New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis and growth retardation occur at a later age. Other frequent multisystemic manifestations include hepatic and renal dysfunction, mental retardation and cardiovascu...
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Full title
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
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TN_cdi_proquest_miscellaneous_71739039
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71739039
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ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/78085
