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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

BACKGROUND: Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical care, guide future medical management and treat...

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Detalles Bibliográficos
Autores principales:	Scocchia, Alicia, Kangas-Kontio, Tiia, Irving, Melita, Hero, Matti, Saarinen, Inka, Pelttari, Liisa, Gall, Kimberly, Valo, Satu, Huusko, Johanna M., Tallila, Jonna, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8501536/ https://www.ncbi.nlm.nih.gov/pubmed/34627339 http://dx.doi.org/10.1186/s13023-021-02025-7

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