Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

• Egile Nagusiak: Lingchi Kong (Egilea), Li Shi (Egilea), Wenbo Wang (Egilea), Rongtai Zuo (Egilea), Mengwei Wang (Egilea), Qinglin Kang (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2019-12-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. Methods Two p...