Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing

BACKGROUND: Detailed analysis of imprinting center (IC) defects in individuals with Prader–Willi syndrome (PWS) is not readily available beyond chromosomal microarray (MA) analysis, and such testing is important for a more accurate diagnosis and recurrence risks. This is the first feasibility study...

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Detalles Bibliográficos
Autores principales: Hartin, Samantha N., Hossain, Waheeda A., Francis, David, Godler, David E., Barkataki, Sangjucta, Butler, Merlin G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465664/
https://www.ncbi.nlm.nih.gov/pubmed/30793526
http://dx.doi.org/10.1002/mgg3.575

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