Open access
Oct 2026
Novel MBTPS1 variant associated with Kondo-Fu syndrome with expanded skeletal manifestations and a distinctive biochemical profile
Kondo-Fu syndrome is an ultra-rare genetic disorder caused by variants in the MBTPS1 gene, which plays a key role in lysosomal function and skeletal homeostasis. Clinical presentation is characterized by spondyloepiphyseal dysplasia, low bone mineral density, and cataracts. This study aimed to expand the clinic...
Dorra Najjar, A. Maver, I. Chelly et al.
· Frontiers in Endocrinology · 0 citations