Pendred Syndrome Latest Advances
Find the Latest Research About Pendred Syndrome
Last Updated: 09/26/2026
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Found 278 publications
The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.
Journal: Journal of biomedical science
Published: March 08, 2026
ATP6V1B1-A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis.
Journal: The Laryngoscope
Published: December 29, 2025
Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.
Journal: International journal of molecular sciences
Published: August 27, 2025
Novel SLC26A4 variant in Pendred syndrome with non-classical inheritance: a case report.
Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
Published: June 30, 2025
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.
Journal: Endocrine
Published: April 30, 2025
Low Efficiency of Homology-Independent Targeted Integration for CRISPR/Cas9 Correction in the Vicinity of the SLC26A4 c.919-2A>G Variant.
Journal: International journal of molecular sciences
Published: March 31, 2025
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Journal: Molecular medicine (Cambridge, Mass.)
Published: March 26, 2025
Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review.
Journal: Frontiers in oncology
Published: March 13, 2025
Last Updated: 09/26/2026