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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...

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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

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