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A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and prognosis. There has been a recent expansion in the number of genes associated with a mendelian overgrowth phenotype, so this review updates previo...

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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836217/
https://ncbi.nlm.nih.gov/pubmed/29593474
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000484532
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