Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

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 chromosome 15 imprinting disorders at po...

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Detalles Bibliográficos
Autores principales: Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728620/
https://www.ncbi.nlm.nih.gov/pubmed/34982160
http://dx.doi.org/10.1001/jamanetworkopen.2021.41911

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