Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation

• Main Authors: Guannan He (Author), Yan Yin (Author), Jing Zhao (Author), Xueyan Wang (Author), Jiaxiang Yang (Author), Xi Chen (Author), Li Ding (Author), Yan Bai (Author)
• Formato: Libro
• Publicado: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Abstract Background X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most of the affected men had mild symptoms, some had more severe sy...