Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare genetic diseases. We present evidence for disease-caus...

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Detalles Bibliográficos
Autores principales: Akter, Hosneara, Hossain, Mohammad Shahnoor, Dity, Nushrat Jahan, Rahaman, Md. Atikur, Furkan Uddin, K. M., Nassir, Nasna, Begum, Ghausia, Hameid, Reem Abdel, Islam, Muhammad Sougatul, Tusty, Tahrima Arman, Basiruzzaman, Mohammad, Sarkar, Shaoli, Islam, Mazharul, Jahan, Sharmin, Lim, Elaine T., Woodbury-Smith, Marc, Stavropoulos, Dimitri James, O’Rielly, Darren D., Berdeiv, Bakhrom K., Nurun Nabi, A. H. M., Ahsan, Mohammed Nazmul, Scherer, Stephen W., Uddin, Mohammed
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/PMC7887195/
https://www.ncbi.nlm.nih.gov/pubmed/33594065
http://dx.doi.org/10.1038/s41525-021-00173-0

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