Varaico: Literature-Extracted Genetic Variants

Gene:FOXA2
Variant:p.R257L
Back to variants list

FOXA2

NM_021784.5:p.R257L

Associated Papers

Congenital hyperinsulinism and panhypopituitarism: a rare combination.

Patel F et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2023

Syndromic forms of congenital hyperinsulinism.

Zenker M et al.

Frontiers in Endocrinology, 2023

37065762 (PubMed )
Supplement: Table_1.xlsx › FOXA2

Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.

Bando H et al.

Frontiers in Endocrinology, 2022

Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects.

Kaygusuz SB et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report.

Sugawara D et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

Boda H et al.

European Journal of Medical Genetics, 2019

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Dines JN et al.

American Journal of Medical Genetics. Part A, 2019

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.

Stekelenburg C et al.

Pediatric Diabetes, 2019

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.

Vajravelu ME et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."