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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789006/ https://www.ncbi.nlm.nih.gov/pubmed/33407338 http://dx.doi.org/10.1186/s12891-020-03890-2 |