Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilisation of exome sequencing (ES) for Thai paediat...

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Detalles Bibliográficos
Autores principales: Summa, Sarinya, Ittiwut, Chupong, Kulsirichawaroj, Pimchanok, Paprad, Tanitnun, Likasitwattanakul, Surachai, Sanmaneechai, Oranee, Boonsimma, Ponghatai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9876991/
https://www.ncbi.nlm.nih.gov/pubmed/36697461
http://dx.doi.org/10.1038/s41598-023-28405-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9876991/
https://www.ncbi.nlm.nih.gov/pubmed/36697461
http://dx.doi.org/10.1038/s41598-023-28405-6

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