A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases

• Main Authors: Lin Zhou (Author), Ying Peng (Author), Jing Chen (Author), Hui Xi (Author), Si Wang (Author), Gehua Kang (Author), Wanglan Tang (Author), Wanqin Xie (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachytelephalangy. ARSL (formerly known as ARSE), a member of the sulfatase gene family located on Xp22.3, has been identifie...