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Article

Increased Transactivation Associated with<i>SOX</i>3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

3 Feb 2011

Abstract excerpt

BACKGROUND AND AIMS: Correct gene dosage of SOX3 is critical for the development of the hypothalamo-pituitary axis. Both overdosage of SOX3, as a result of gene duplication, and loss of function resulting from expansion of the first polyalanine (PA) tract are associated with variable degrees of hypopituitarism, with or without mental retardation. The aim of this study was to further investigate the contribution...

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Identifiers

PMID: 21289259
DOI: 10.1210/jc.2010-1239

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Increased Transactivation Associated with<i>SOX</i>3 Polyalanine Tract Deletion in a Patient with HypopituitarismPMID 21289259Read ↗

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