Associated Papers
From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant.
Connolly C et al.
American Journal of Medical Genetics. Part A, 2026
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
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Zheng B et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
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
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
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.
Galcheva S et al.
Frontiers in Endocrinology, 2019
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
Giri D et al.
Human Molecular Genetics, 2017
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