Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

OBJECTIVE: The present study aims to investigate the clinical features and diagnostic characteristics of children with Cohen syndrome caused by the vacuolar protein sorting 13 homolog B (VPS13B) gene mutation and to review the relevant literature to provide a reference for genetic counseling and the...

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Detalles Bibliográficos
Autores principales: Hu, Xiaoyun, Huang, Tao, Liu, Yun, Zhang, Lina, Zhu, Li, Peng, Xiaohong, Zhang, Sufang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657012/
https://www.ncbi.nlm.nih.gov/pubmed/34898996
http://dx.doi.org/10.2147/PGPM.S327252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657012/
https://www.ncbi.nlm.nih.gov/pubmed/34898996
http://dx.doi.org/10.2147/PGPM.S327252

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