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Article

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.

Diabetes - 1 Jul 2004

Senée Valérie, Vattem Krishna M, Delépine Marc, Rainbow Lynn A, Haton Céline, Lecoq Annick, Shaw Nick J, Robert Jean-Jacques, Rooman Raoul, Diatloff-Zito Catherine, Michaud Jacques L, Bin-Abbas Bassan, Taha Doris, Zabel Bernard, Franceschini Piergiorgio, Topaloglu A Kemal, Lathrop G Mark, Barrett Timothy G, Nicolino Marc, Wek Ronald C, Julier Cécile

Abstract excerpt

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 identified the gene responsible for this disorder as EIF2AK3, the...

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Identifiers

PMID: 15220213
DOI: 10.2337/diabetes.53.7.1876

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.PMID 15220213Read ↗

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