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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Detalhes bibliográficos

Principais autores:	Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2025-06-01
coleção:	Orthopaedic Surgery
Assuntos:	FLNA heterozygous mutation missense mutation spondylocostal dysplasia
Acesso em linha:	https://doi.org/10.1111/os.70026
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