Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

X-Linked recessive chondrodysplasia punctata (CDPX1) is a rare skeletal dysplasia characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia. CDPX1 is caused by function loss of arylsulfatase E (ARSE, also known as ARSL). Pathogenic mutations in ARSE are responsible for CD...

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Bibliographic Details
Main Authors: Li Zhang, Haoran Hu, Desheng Liang, Zhuo Li, Lingqian Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Genetics
Subjects:
X-linked recessive chondrodysplasia punctata
ARSE
prenatal diagnosis
novel mutation
functional experiment
skeletal disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.722694/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.722694/full

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