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Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations
Spondyloenchondrodysplasia (SPENCD) is an immune-osseous disorder caused by biallelic variants in ACP5 gene and is less commonly associated with neurological abnormalities such as global developmental delay, spasticity and seizures. Herein, we describe five new patients from four unrelated Egyptian...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133048/ https://www.ncbi.nlm.nih.gov/pubmed/37010587 http://dx.doi.org/10.1007/s00438-023-02009-1 |