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Objective
The objective of this study was to describe molecular findings and phenotypic features among individuals referred for prenatal Beckwith‐Wiedemann syndrome (BWS) testing.
Methods
Molecular diagnostic testing was performed using a sensitive quantitative real‐time PCR‐based assay capable of detecting mosaic methylation to the level of 3% at IC1 and IC2. Sanger sequencing of CDKN1C was performed...