Wolcott Rallison Syndrome Latest Advances

Find the Latest Research About Wolcott Rallison Syndrome

Last Updated: 09/26/2026

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Found 136 publications

Atypical presentation of Wolcott-Rallison syndrome with severe Epstein-Barr virus hepatitis, secondary peroxisomal dysfunction and novel neuroimaging features.

Atypical presentation of Wolcott-Rallison syndrome with severe Epstein-Barr virus hepatitis, secondary peroxisomal dysfunction and novel neuroimaging features.

Journal: BMJ case reports
Published: August 24, 2026

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.

Journal: Diabetic medicine : a journal of the British Diabetic Association
Published: July 20, 2026

Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease.

Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease.

Journal: Diagnostics (Basel, Switzerland)
Published: April 09, 2026

Wolcott-Rallison Syndrome: A Case Report with Novel Homozygous EIF2AK3 Gene Mutation.

Wolcott-Rallison Syndrome: A Case Report with Novel Homozygous EIF2AK3 Gene Mutation.

Journal: Klinische Padiatrie
Published: March 26, 2026

Monogenic Neonatal Diabetes: Clinical Presentations, Genetic Findings, and Response to Therapy in a Retrospective Case Series.

Monogenic Neonatal Diabetes: Clinical Presentations, Genetic Findings, and Response to Therapy in a Retrospective Case Series.

Journal: Cureus
Published: January 29, 2026

The PERK inhibitor GSK2606414 evokes developmental defects in zebrafish consistent with Wolcott-Rallison syndrome phenotypes.

The PERK inhibitor GSK2606414 evokes developmental defects in zebrafish consistent with Wolcott-Rallison syndrome phenotypes.

Journal: Pharmacological reports : PR
Published: July 28, 2025

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: June 04, 2025

A Novel EIF2AK3 Variant Causing Wolcott-Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report.

A Novel EIF2AK3 Variant Causing Wolcott-Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report.

Journal: Clinical case reports
Published: May 29, 2025

Using SARS-CoV-2-Positive Donors Under 1 Year of Age: A Case Series of Successful Combined Liver-Pancreas and Isolated Liver Pediatric Transplantation.

Using SARS-CoV-2-Positive Donors Under 1 Year of Age: A Case Series of Successful Combined Liver-Pancreas and Isolated Liver Pediatric Transplantation.

Journal: Pediatric transplantation
Published: May 09, 2025

Wolcott-Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of EIF2AK3 gene.

Wolcott-Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of EIF2AK3 gene.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: April 20, 2025

Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.

Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 02, 2025

Wolcott-Rallison syndrome - crosstalk between PERK- EIF2A and type II interferon signaling.

Wolcott-Rallison syndrome - crosstalk between PERK- EIF2A and type II interferon signaling.

Journal: European journal of medical genetics
Published: December 26, 2024
Showing 1-12 of 136

Last Updated: 09/26/2026