Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

BACKGROUND: De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher. Still, the recurrence risk estimates are mainly based on empi...

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Detalles Bibliográficos
Autores principales: Frisk, Sofia, Wachtmeister, Alexandra, Laurell, Tobias, Lindstrand, Anna, Jäntti, Nina, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Tesi, Bianca, Taylan, Fulya, Nordgren, Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000944/
https://www.ncbi.nlm.nih.gov/pubmed/35118825
http://dx.doi.org/10.1002/mgg3.1880

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000944/
https://www.ncbi.nlm.nih.gov/pubmed/35118825
http://dx.doi.org/10.1002/mgg3.1880

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