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...

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Detalles Bibliográficos
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:
Genetics
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

Internet

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

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