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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...

詳細記述

保存先:
書誌詳細
出版年:Mol Syndromol
主要な著者: Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.
フォーマット: Artigo
言語:Inglês
出版事項: S. Karger AG 2018
主題:
オンライン・アクセス: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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