Houda Yacoub-Youssef

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...