Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience

Skeletal dysplasia (SD), a heterogeneous disease group with rare incidence and various clinical manifestations, is associated with multiple causative genes. For clinicians, accurate diagnosis of SD is clinically and genetically difficult. The development of next-generation sequencing (NGS) has subst...

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Detalles Bibliográficos
Autores principales: Kim, Su Jin, Lee, Sae-Mi, Choi, Jong-Moon, Jang, Ja-Hyun, Kim, Hyun Gi, Kim, Jung-Taek, Cho, Jae Ho, Sohn, Young Bae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188553/
https://www.ncbi.nlm.nih.gov/pubmed/34122524
http://dx.doi.org/10.3389/fgene.2021.670608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188553/
https://www.ncbi.nlm.nih.gov/pubmed/34122524
http://dx.doi.org/10.3389/fgene.2021.670608

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