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

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...

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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.
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Número de Clasificación: A1234.567
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