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Article

Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function.

Pituitary - 1 Aug 2015

Guran Tulay, Guran Omer, Paketci Cem, Kipoglu Osman, Firat Irfan, Turan Serap, Atay Zeynep, Haliloglu Belma, Bereket Abdullah

Abstract excerpt

BACKGROUND: Stuve-Wiedemann syndrome (STWS) (MIM #601559) is a rare autosomal recessive disorder caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene. STWS has a diverse range of clinical features involving hematopoietic, skeletal, neuronal and immune systems. STWS manifests a high mortality due to increased risk of sudden death. Heterodimerization of the LIFR mediates leukemia inhibitory...

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Identifiers

PMID: 25145448
DOI: 10.1007/s11102-014-0594-5

Genes

LIFR
LIF
STAT3

Provenance

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