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Article

Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation

20 Jun 2006

Abstract excerpt

CONTEXT: GH insensitivity can be caused by defects in the GH receptor (GHR) or in the postreceptor signaling pathway. Recently, two female patients with severe growth retardation and pulmonary and immunological problems were described with a defect in STAT5b, a critical intermediary of downstream GHR signaling. OBJECTIVE: The objective was to determine the functional characteristics of a novel STAT5b mutation and...

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Identifiers

PMID: 16787985
DOI: 10.1210/jc.2006-0368

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Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b MutationPMID 16787985Read ↗

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