A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia

• Main Authors: Fu-Chieh Chu (Author), Ling-Yien Hii (Author), Tai-Ho Hung (Author), Liang-Ming Lo (Author), T'sang-T'ang Hsieh (Author), Steven W. Shaw (Author)
• Formato: Livro
• Publicado em: Elsevier, 2021-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Objective: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owin...