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Last Updated: 10/31/2025
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Found 234 publications
Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
Journal: Molecular genetics & genomic medicine
Published: April 07, 2025
A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Journal: Human molecular genetics
Published: September 27, 2024
Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A.
Journal: Ophthalmic genetics
Published: June 10, 2024
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Journal: Orphanet journal of rare diseases
Published: May 14, 2024
Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.
Journal: Cureus
Published: April 12, 2024
A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Journal: Molecular biology reports
Published: January 26, 2024
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Journal: BMC medical genomics
Published: November 10, 2023
Waardenburg Syndrome Type 2 in Paediatrics: A Case Highlighting Diagnostic Complexities and the Efficacy of Cochlear Implantation.
Journal: Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
Published: October 23, 2023
A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.
Journal: The journal of international advanced otology
Published: June 05, 2023
A 22q13.1 duplication in mosaicism including SOX10.
Journal: American journal of medical genetics. Part A
Published: May 24, 2023
Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 22, 2023
Last Updated: 10/31/2025