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Article

Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.

European journal of endocrinology - 1 Feb 2007

Walenkamp Marie J E, Vidarsdottir Solrun, Pereira Alberto M, Karperien Marcel, van Doorn Jaap, van Duyvenvoorde Hermine A, Breuning Martijn H, Roelfsema Ferdinand, Kruithof M Femke, van Dissel Jaap, Janssen Riny, Wit Jan M, Romijn Johannes A

Abstract excerpt

OBJECTIVE: STAT5b is a component of the GH signaling pathway. Recently, we described a 31-year-old male patient (height, -5.9 SDS) with a novel homozygous inactivating mutation in the STAT5b gene. The purpose of this study is to describe the phenotype in detail, including GH secretion and immunological function. In addition, we report four family members of this patient, all heterozygous carriers of the mutation....

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Source

Identifiers

PMID: 17287404
DOI: 10.1530/eje.1.02327

Genes

SDS
TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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