Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing

BACKGROUND: Waardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of...

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Detalles Bibliográficos
Autores principales: Lee, Chen‐Yu, Lo, Ming‐Yu, Chen, You‐Mei, Lin, Pei‐Hsuan, Hsu, Chuan‐Jen, Chen, Pei‐Lung, Wu, Chen‐Chi, Hsu, Jacob Shujui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747560/
https://www.ncbi.nlm.nih.gov/pubmed/36331148
http://dx.doi.org/10.1002/mgg3.2082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747560/
https://www.ncbi.nlm.nih.gov/pubmed/36331148
http://dx.doi.org/10.1002/mgg3.2082

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