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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

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...

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Hlavní autoři: Lin Zhou, Ying Peng, Jing Chen, Hui Xi, Si Wang, Gehua Kang, Wanglan Tang, Wanqin Xie
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2024-10-01
Edice:BMC Medical Genomics
Témata:
Chondrodysplasia punctata
ARSL
Nasal hypoplasia
Prenatal diagnosis
On-line přístup:https://doi.org/10.1186/s12920-024-02029-9
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