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

• Autori principali: Maha Alotaibi (Autore), Ali Aldossari (Autore), Imran Khan (Autore), Leena Alotaibi (Autore)
• Natura: Libro
• Pubblicazione: Hindawi Limited, 2022-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...