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Article

Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Al-Shawi Manal, Al Mutair Angham, Ellard Sian, Habeb Abdelhadi M

Abstract excerpt

Wolcott-Rallison syndrome (WRS) is a rare condition characterized by permanent neonatal diabetes (PND), skeletal dysplasia, and recurrent hepatitis. Other features, including central hypothyroidism, have been reported. We compared the phenotype of five patients from two families with WRS caused by the same EIF2AK3 mutation who have been followed up since diagnosis. Direct sequencing of the EIF2AK3 gene identified...

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Identifiers

PMID: 23585173
DOI: 10.1515/jpem-2012-0071

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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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