Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome

Background: Biallelic variations in the armadillo repeat-containing 9 (ARMC9) gene were recently defined to cause Joubert syndrome (JS) type thirty. In this study, two unrelated families with probands displaying typical indications of JS were enrolled and underwent a series of clinical and genetic i...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Hao, Luo, Guanjun, Hu, Wensheng, Mei, Jin, Shen, Yue, Wang, Min, Tan, Yuan, Yang, Yang, Lu, Chao, Zhao, Yong, Qi, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855066/
https://www.ncbi.nlm.nih.gov/pubmed/35186037
http://dx.doi.org/10.3389/fgene.2022.817153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855066/
https://www.ncbi.nlm.nih.gov/pubmed/35186037
http://dx.doi.org/10.3389/fgene.2022.817153

Ejemplares similares