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...

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Detalles Bibliográficos
Autores principales: Elhossini, Rasha M., Elbendary, Hasnaa M., Rafat, Karima, Ghorab, Raghda M., Abdel-Hamid, Mohamed S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
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

Internet

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

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