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Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Am J Med Genet A. 2023 Apr;191(4):1050-1058. doi: 10.1002/ajmg.a.63125. Epub 2023 Feb 7.
Am J Med Genet A. 2023.
PMID: 36751885
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Awamleh Z, Chater-Diehl E, Choufani S, Wei E, Kianmahd RR, Yu A, Chad L, Costain G, Tan WH, Scherer SW, Arboleda VA, Russell BE, Weksberg R.
Awamleh Z, et al. Among authors: kianmahd rr.
Eur J Hum Genet. 2022 Jun;30(6):695-702. doi: 10.1038/s41431-022-01083-0. Epub 2022 Apr 1.
Eur J Hum Genet. 2022.
PMID: 35361921
Free PMC article.
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