Preimplantation genetic testing for recurrent autosomal dominant osteogenesis imperfecta associated with paternal gonosomal mosaicism

Research Question: How to prevent the transfer of a mutation causing osteogenesis imperfecta (OI) to offspring in a couple with recurrent adverse pregnancy outcomes, when the male partner is a gonosomal mosaic carrier. Design: High-throughput sequencing and first-generation DNA sequencing were perfo...

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Detalles Bibliográficos
Autores principales: Bai, Haiyan, Li, Xiaofang, Liu, Xitong, Shi, Wenhao, He, Bin, Wei, Ruiyang, Shi, Juanzi
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/PMC9579439/
https://www.ncbi.nlm.nih.gov/pubmed/36276971
http://dx.doi.org/10.3389/fgene.2022.1011833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579439/
https://www.ncbi.nlm.nih.gov/pubmed/36276971
http://dx.doi.org/10.3389/fgene.2022.1011833

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