Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing

BACKGROUND AND OBJECTIVES: The aim of this study was to uncover the genetic cause of delayed psychomotor development and variable intellectual disability in a proband whose previous genetic analyses, including chromosome microarray and whole exome sequencing, had been negative. METHODS: Long-read se...

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Detalles Bibliográficos
Autores principales: Wang, Ya, Tan, Jianxin, Wang, Yan, Liu, An, Qiao, Fengchang, Huang, Mingtao, Zhang, Cuiping, Zhou, Jing, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8611502/
https://www.ncbi.nlm.nih.gov/pubmed/34841066
http://dx.doi.org/10.1212/NXG.0000000000000635

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8611502/
https://www.ncbi.nlm.nih.gov/pubmed/34841066
http://dx.doi.org/10.1212/NXG.0000000000000635

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