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Article

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.

The Journal of clinical endocrinology and metabolism - 1 Aug 2013

Wang Sophie R, Carmichael Heather, Andrew Shayne F, Miller Timothy C, Moon Jennifer E, Derr Michael A, Hwa Vivian, Hirschhorn Joel N, Dauber Andrew

Abstract excerpt

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 that contribute to short stature in a cohort of children with no known genetic etiology. DESIGN: This was a...

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Identifiers

PMID: 23771920
DOI: 10.1210/jc.2013-1534
PMCID: PMC3733853

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PTPN11

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