Cargando…
Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis o...
Autores principales: | Jin, Jie-Yuan, Zeng, Lei, Guo, Bing-Bing, Dong, Yi, Tang, Ju-Yu, Xiang, Rong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385755/ https://www.ncbi.nlm.nih.gov/pubmed/34456975 http://dx.doi.org/10.3389/fgene.2021.705973 |
Ejemplares similares
-
A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I
por: Yang, Shu-Zhi, et al.
Publicado: (2023) -
Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1
por: Hu, Qiuming, et al.
Publicado: (2021) -
High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing
por: Zhang, Sen, et al.
Publicado: (2021) -
Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia
por: Zhong, Guoxing, et al.
Publicado: (2022) -
Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
por: Thongpradit, Supranee, et al.
Publicado: (2020)