Large-Scale Pooled Next-Generation Sequencing of 1077 Genes to Identify Genetic Causes of Short Stature

CONTEXT: The majority of patients presenting with short stature do not receive a definitive diagnosis. Advances in genetic sequencing allow for large-scale screening of candidate genes, potentially leading to genetic diagnoses. OBJECTIVES: The purpose of this study was to discover genetic variants t...

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Detalhes bibliográficos
Main Authors: Wang, Sophie R., Carmichael, Heather, Andrew, Shayne F., Miller, Timothy C., Moon, Jennifer E., Derr, Michael A., Hwa, Vivian, Hirschhorn, Joel N., Dauber, Andrew
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2013
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3733853/
https://ncbi.nlm.nih.gov/pubmed/23771920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-1534
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