Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course

Early-onset metaphyseal chondrodysplasia

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains

✍ Outi Mäkitie; Miki Susic; William G. Cole 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 189 KB

## Abstract Both dominant‐negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frame‐shift mutations of __COL10A1__. This study examines these alternative effects. A proband with typical early‐onset MCD