Stuve-Wiedemann syndrome
Definition:
Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease.
References:
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[1]. Isabel Mendes Gaspar, et al. Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. Am J Med Genet A. 2008 Jul 1;146A(13):1748-53. [Content Brief]
[2]. Nathalie Dagoneau, et al. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2):298-305. [Content Brief]
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