A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

• Autores principales: Qianwen Zhang (Autor), Ruen Yao (Autor), Qun Li (Autor), Xin Li (Autor), Biyun Feng (Autor), Guoying Chang (Autor), Jian Wang (Autor), Xiumin Wang (Autor)
• Formato: Libro
• Publicado: BMC, 2021-08-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal dominant disease, whereas some rare cases with autosoma...