Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diagnosis of...

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Detalles Bibliográficos
Autores principales: Merico, Daniele, Pasternak, Yehonatan, Zarrei, Mehdi, Higginbotham, Edward J., Thiruvahindrapuram, Bhooma, Scott, Ori, Willett-Pachul, Jessica, Grunebaum, Eyal, Upton, Julia, Atkinson, Adelle, Kim, Vy H. D., Aliyev, Elbay, Fakhro, Khalid, Scherer, Stephen W., Roifman, Chaim M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602677/
https://www.ncbi.nlm.nih.gov/pubmed/34795304
http://dx.doi.org/10.1038/s41525-021-00263-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602677/
https://www.ncbi.nlm.nih.gov/pubmed/34795304
http://dx.doi.org/10.1038/s41525-021-00263-z

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