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Whole exome sequencing to identify genetic causes of short stature

BACKGROUND/AIMS: Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. METHO...

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Huvudupphovsmän: Guo, Michael H., Shen, Yiping, Walvoord, Emily C., Miller, Timothy C., Moon, Jennifer E., Hirschhorn, Joel N, Dauber, Andrew
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2014
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4130218/
https://ncbi.nlm.nih.gov/pubmed/24970356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000360857
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