Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Authors :: Maas SM
Krzyzewska IM
Lombardi MPR
Mannens MMA
Vos N
Bliek J
Source :: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jun; Vol. 31 (6), pp. 615-616. Date of Electronic Publication: 2023 Apr 03.
Publication Year :: 2023

Subjects :: Humans
Genomic Imprinting
DNA Methylation
Diagnostic Techniques and Procedures
Mosaicism
Uniparental Disomy diagnosis
Uniparental Disomy genetics
Beckwith-Wiedemann Syndrome diagnosis
Beckwith-Wiedemann Syndrome genetics

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