Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

ABSTRACT: Molecular diagnostic testing of the 11p15.5-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging due to the broad spectrum of molecular defects and their mosaic occurrence. Additionally, the decision on the molecular testing algorithm is...

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Detalles Bibliográficos
Autores principales: Eggermann, Thomas, Brück, Johanna, Knopp, Cordula, Fekete, György, Kratz, Christian, Tasic, Velibor, Kurth, Ingo, Elbracht, Miriam, Eggermann, Katja, Begemann, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524824/
https://www.ncbi.nlm.nih.gov/pubmed/32839827
http://dx.doi.org/10.1007/s00109-020-01966-z

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