Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline mosaicism; but for any specific couple, this figure is usually incorrect. We present a systematic approach to providin...

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Bibliographic Details
Main Authors:	Bernkopf, M, Abdullah, UB, Bush, SJ, Wood, KA, Ghaffari, S, Koelling, N, Maher, GJ, Williams, J, Blair, EM, Kelly, FB, Bloss, A, Kini, U, Németh, AH, Saunders, K, Shears, DJ, Stewart, H, Clouston, P, Davies, RW, Wilkie, AOM, Goriely, A
Format:	Journal article
Language:	English
Published:	Springer Nature 2023
Subjects:	genetic testing molecular medicine

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

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