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Article

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene.

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2021

Gupta Atul, Reddy Chaithanya, Saini Lokesh, Yadav Jaivinder, Kumar Rakesh, Houghton Jayne, Ellard Sian, Dayal Devi

Abstract excerpt

BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal diabetes mellitus (NDM), epiphyseal dysplasia, and hepatic and renal dysfunction. Although neuro-psychological features are common in patients with WRS, malformations of cortical development (MCDs) are rarely reported. CASE PRESENTATION: A 3-month-old boy, born to non-consanguineous parents, presented with...

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Identifiers

PMID: 34928108
DOI: 10.5114/pedm.2021.107719
PMCID: PMC10226343

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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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