Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient

Spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia associated with kyphosis and low bone mineral density, significantly delayed growth, and skeletal deformities. Blood lysosomal enzyme levels have also been shown to be elevated with a delay in development. The first variant described...

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Detalles Bibliográficos
Autores principales: Alotaibi, Maha, Aldossari, Ali, Khan, Imran, Alotaibi, Leena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626241/
https://www.ncbi.nlm.nih.gov/pubmed/36330313
http://dx.doi.org/10.1155/2022/5498109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626241/
https://www.ncbi.nlm.nih.gov/pubmed/36330313
http://dx.doi.org/10.1155/2022/5498109

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