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Last Updated: 10/31/2025
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Found 1072 publications
Pigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota.
Journal: Cureus
Published: August 18, 2025
Exploration of the pathogenic mechanism of a novel c.661_664dup (p.P222Lfs*60) variant of SOX10 gene
Exploration of the pathogenic mechanism of a novel c.661_664dup (p.P222Lfs*60) variant of SOX10 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: July 07, 2025
Vestibular Deficit in Patients with Waardenburg Syndrome.
Journal: Biomedicines
Published: June 13, 2025
Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.
Journal: International journal of molecular sciences
Published: June 05, 2025
Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.
Journal: American journal of medical genetics. Part A
Published: May 29, 2025
Waardenburg Syndrome With T-Lymphoblastic Lymphoma: A Case Report.
Journal: Pediatric blood & cancer
Published: May 11, 2025
Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
Journal: Molecular genetics & genomic medicine
Published: April 07, 2025
Waardenburg syndrome: a unique presentation with unilateral choroidal hypopigmentation and bilateral congenital toxoplasmosis scars.
Journal: BMJ case reports
Published: April 03, 2025
Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.
Journal: Scientific reports
Published: March 26, 2025
Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.
Journal: Ophthalmic genetics
Published: March 05, 2025
Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.
Journal: Translational psychiatry
Published: January 19, 2025
Mechanisms of enhanced noise susceptibility in waardenburg syndrome Sox10 p.S100Rfs*9 mutant mice
Journal: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
Published: December 30, 2024
Last Updated: 10/31/2025