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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Detalles Bibliográficos
Autores principales: Zhang, Li, Hu, Haoran, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498588/
https://www.ncbi.nlm.nih.gov/pubmed/34630518
http://dx.doi.org/10.3389/fgene.2021.722694

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498588/
https://www.ncbi.nlm.nih.gov/pubmed/34630518
http://dx.doi.org/10.3389/fgene.2021.722694

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