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Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report
BACKGROUND: Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tar...
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| Publicado no: | BMC Musculoskelet Disord |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7789006/ https://ncbi.nlm.nih.gov/pubmed/33407338 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-020-03890-2 |
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