Whole Exome Sequencing to Identify Genetic Causes of Short Stature | Zendy

Michael H. Guo | Zendy; Yiping Shen | Zendy; Emily C. Walvoord | Zendy; Timothy C. Miller | Zendy; Jennifer Moon | Zendy; Joel N. Hirschhorn | Zendy; Andrew Dauber | Zendy

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Whole Exome Sequencing to Identify Genetic Causes of Short Stature

Author(s) -

Michael H. Guo,

Yiping Shen,

Emily C. Walvoord,

Timothy C. Miller,

Jennifer Moon,

Joel N. Hirschhorn,

Andrew Dauber

Publication year - 2014

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000360857

Subject(s) - short stature , exome sequencing , idiopathic short stature , genetics , exome , biology , medicine , computational biology , bioinformatics , phenotype , growth hormone , endocrinology , gene , hormone

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.

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