Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
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DOI: 10.1001/jamanetworkopen.2021.41911
Abstract: Importance Newborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplication syndrome (Dup15q) may lead to benefit from early diagnosis and treatment. Objective To examine the feasibility of newborn screening for these… read more here.
Keywords: pws; imprinting disorders; chromosome imprinting; data set ... See more keywords