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

• Main Authors: Maha Alotaibi (Author), Ali Aldossari (Author), Imran Khan (Author), Leena Alotaibi (Author)
• Format: Bog
• Udgivet: Hindawi Limited, 2022-01-01T00:00:00Z.
• Fag: article
• Online adgang: 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...