A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics

Establishing or ruling out a molecular diagnosis of Prader–Willi or Angelman syndrome (PWS/AS) presents unique challenges due to the variety of different genetic alterations that can lead to these conditions. Point mutations, copy number changes, uniparental isodisomy (i-UPD) 15 of two subclasses (s...

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Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: Strom, Samuel P., Hossain, Waheeda A., Grigorian, Melina, Li, Mickey, Fierro, Joseph, Scaringe, William, Yen, Hai-Yun, Teguh, Mirandy, Liu, Joanna, Gao, Harry, Butler, Merlin G.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2021
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8148043/
https://ncbi.nlm.nih.gov/pubmed/34046054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.608889
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