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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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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2018
Assuntos:
Acesso em linha: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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