Associated Papers
Genetics of Waardenburg Syndrome in Africa: A Systematic Review.
Aboagye ET et al.
International Journal of Molecular Sciences, 2025
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T et al.
Clinical Genetics, 2025
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Zhan L et al.
Frontiers in Genetics, 2025
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].
Lin Z et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2023
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.
Wu TF et al.
The Journal of Biological Chemistry, 2015
Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.
Xiao Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2011
[Two novel mutations of GLA gene in Chinese patients with Fabry disease].
An GP et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2007
Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.
Yang SZ et al.
Chinese Medical Journal, 2007
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
Carey ML et al.
Journal of Medical Genetics, 1998
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
Morell R et al.
Journal of Medical Genetics, 1997
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.
Eigelshoven S et al.
Pediatric Dermatology, 0
Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.
Morell R et al.
Human Heredity, 0