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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Bibliographic Details
Main Authors: Su Jin Kim, Sae-Mi Lee, Jong-Moon Choi, Ja-Hyun Jang, Hyun Gi Kim, Jung-Taek Kim, Jae Ho Cho, Young Bae Sohn
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.670608/full