A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant

A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant

ABSTRACT Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD. While seven loci potentially associated with SCD have bee...

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Bibliographic Details
Main Authors: Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:Orthopaedic Surgery
Subjects:
FLNA
heterozygous mutation
missense mutation
spondylocostal dysplasia
Online Access:https://doi.org/10.1111/os.70026
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https://doi.org/10.1111/os.70026

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