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De novo unbalanced translocations have a complex history/aetiology.
Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1.
Hum Genet. 2018.
PMID: 30276538
Clinical Trial.
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.
Nazaryan-Petersen L, Oliveira IR, Mehrjouy MM, Mendez JMM, Bak M, Bugge M, Kalscheuer VM, Bache I, Hancks DC, Tommerup N.
Nazaryan-Petersen L, et al.
Hum Mutat. 2019 Aug;40(8):1057-1062. doi: 10.1002/humu.23775. Epub 2019 May 14.
Hum Mutat. 2019.
PMID: 31033088
Free PMC article.
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