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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggesti...

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggesti...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_66660137

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

About this item

Full title

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Publisher

Alexandria, VA: American Diabetes Association

Journal title

Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883

Language

English

Formats

Publication information

Publisher

Alexandria, VA: American Diabetes Association

More information

Scope and Contents

Contents

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 multisystemic clinical manifestations. Based on genetic studies of two inbred families, we previously iden...

Alternative Titles

Full title

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_66660137

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_66660137

Other Identifiers

ISSN

0012-1797

E-ISSN

1939-327X

DOI

10.2337/diabetes.53.7.1876

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