A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

OBJECTIVE: De novo mutations contribute significantly to severe early‐onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred. METHODS: We demonstrate the power...

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Detalles Bibliográficos
Autores principales: Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva‐Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie‐Louise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725701/
https://www.ncbi.nlm.nih.gov/pubmed/28921562
http://dx.doi.org/10.1002/pd.5156

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