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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Autors principals:	Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2025-06-01
Col·lecció:	Orthopaedic Surgery
Matèries:	FLNA heterozygous mutation missense mutation spondylocostal dysplasia
Accés en línia:	https://doi.org/10.1111/os.70026
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