hrp0097p1-224 | Bone, Growth Plate and Mineral Metabolism | ESPE2023
Özdem&idot;r Uslu Zülal
, Muratoğlu Şah&idot;n Nursel
, Akin Agah
, Tuğçe Tunca Küçükal&idot; Elif
, Çet&idot;nkaya Semra
Introduction: Metaphyseal dysplasia, Spahr type(MDST) is an autosomal recessive primary skeletal dysplasia characterized by postnatal short stature, progressive bowing deformity, waddling gait, with an incidence of <1/1 million. MDST is caused by mutations in Matrix metallopeptidase 13(MMP13) gene. The MMP13 plays a role in the degradation of extracellular matrix proteins. It is required for embryonic bone development and ossification. It may be involved in...