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Article

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

American journal of human genetics - 1 Feb 2004

Dagoneau Nathalie, Scheffer Deborah, Huber Céline, Al-Gazali Lihadh I, Di Rocco Maja, Godard Anne, Martinovic Jelena, Raas-Rothschild Annick, Sigaudy Sabine, Unger Sheila, Nicole Sophie, Fontaine Bertrand, Taupin Jean-Luc, Moreau Jean-François, Superti-Furga Andrea, Le Merrer Martine, Bonaventure Jacky, Munnich Arnold, Legeai-Mallet Laurence, Cormier-Daire Valérie

Abstract excerpt

Stuve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened trabecular pattern, camptodactyly, respiratory distress, feeding difficulties, and hyperthermic episodes responsible for e...

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Identifiers

PMID: 14740318
DOI: 10.1086/381715
PMCID: PMC1181927

Genes

LIFR
STAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14740318-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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