Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis

Background and aims: X-linked ichthyosis (XLI) is a common recessive genetic disease caused by the deletion of steroid sulfatase (STS) in Xp22.31. Maternal copy-number deletions in Xp22.31 (covering STS) can be considered an incidental benefit of genome-wide cell-free DNA profiling. Here, we explore...

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Detalles Bibliográficos
Autores principales: Tang, Xinxin, Wang, Zhiwei, Yang, Shuting, Chen, Min, Zhang, Yue, Zhang, Fang, Tan, Juan, Yin, Ting, Wang, Leilei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471005/
https://www.ncbi.nlm.nih.gov/pubmed/36118896
http://dx.doi.org/10.3389/fgene.2022.934952

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