Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2014

Triantafyllou Panagiota, Vargiami Euthymia, Vagianou Isidora, Badouraki Maria, Julier Cecile, Zafeiriou Dimitrios I

Abstract excerpt

Wolcott-Rallison syndrome (WRS) is a very rare genetic disorder, which is transmitted by autosomal recessive inheritance and results from mutations in the gene encoding the eukaryotic initiation factor 2-α kinase-3 (EIF2AK3). The cardinal features of the syndrome include early-onset insulin-dependent diabetes mellitus, multiple epiphyseal dysplasia, and growth retardation. We present the case of a 13-year-old...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Diabetes Mellitus, Type 1

Share to eIF-2 Kinase

Share to Mutation

Share to Osteochondrodysplasias

Source

Identifiers

PMID: 24859506
DOI: 10.1515/jpem-2013-0469

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.PMID 24859506Read ↗

Wolcott-Rallison syndrome.Semantic proximity Read ↗

Wolcott-Rallison syndrome: a case series of three patients.Semantic proximity Read ↗

Wolcott‐Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literatureSemantic proximity Read ↗

THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME.Semantic proximity Read ↗

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.Semantic proximity Read ↗

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

Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.Semantic proximity Read ↗

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.Semantic proximity Read ↗

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.Semantic proximity Read ↗

[Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome].Semantic proximity Read ↗

Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.