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Article

Stuve-Wiedemann syndrome: is it underrecognized?

American journal of medical genetics. Part A - 1 Sept 2014

Yeşil Gözde, Lebre Anne Sophie, Santos Sofia Dos, Güran Omer, Özahi Ilke Ipek, Daire Valeria Cormier, Güran Tülay

Abstract excerpt

Stuve-Wiedemann Syndrome (SWS) (OMIM #601559) is an autosomal recessive disorder characterized by skeletal changes, bowing of the lower limb, severe osteoporosis and joint contractures, episodic hyperthermia, frequent respiratory infections, feeding problems and high mortality in early life. It is caused by mutation in the leukemia inhibitory factor receptor gene (LIFR; 151443) on chromosome 5p13. We provide the...

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Source

Identifiers

PMID: 24988918
DOI: 10.1002/ajmg.a.36626

Genes

LIFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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