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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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wiley
2025-06-01
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| Серии: | Orthopaedic Surgery |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1111/os.70026 |
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