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

• Главные авторы: Guannan He (Автор), Yan Yin (Автор), Jing Zhao (Автор), Xueyan Wang (Автор), Jiaxiang Yang (Автор), Xi Chen (Автор), Li Ding (Автор), Yan Bai (Автор)
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• Опубликовано: BMC, 2019-07-01T00:00:00Z.
• Предметы: article
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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...