Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations

BACKGROUND: De novo mutations (DNMs) are linked with many severe early-onset disorders ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs are considered to have an estimated recurrence rate of 1%. Recently, studies have revealed a higher prevalence of parental...

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Detalles Bibliográficos
Autores principales: Xu, Naixin, Shi, Weihui, Cao, Xianling, Zhou, Xuanyou, Jin, Li, Huang, He-Feng, Chen, Songchang, Xu, Chenming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447385/
https://www.ncbi.nlm.nih.gov/pubmed/36707240
http://dx.doi.org/10.1136/jmg-2022-108920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447385/
https://www.ncbi.nlm.nih.gov/pubmed/36707240
http://dx.doi.org/10.1136/jmg-2022-108920

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