LIFR

Publications

Al-Gazali LI et al. Stüve-Wiedemann syndrome in children surviving infancy: Clinical and radiological features. Clin Dysmorphol. 2003;12(1):1–8. PMID 12514358

Dagoneau N et al. Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome. Am J Hum Genet. 2004;74(2):298–305. PMID 14740318

Jung C et al. Stüve-Wiedemann syndrome: Long-term follow-up and genetic heterogeneity. Clin Genet. 2010;77(3):266–72. PMID 20447141

Romeo Bertola D et al. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects. Mol Syndromol. 2016;7(1):12–8. PMID 27194968

Siccha SM et al. Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature. Am J Med Genet Part A. 2020;1–10. PMID: 33305909.

Warnier H et al. Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review. Orphanet J Rare Dis. 2022;17(1):174. PMID: 35461249.

Yeşil G et al. Stüve-Wiedemann syndrome: Is it underrecognized? Am J Med Genet Part A. 2014;164(9):2200–5. PMID 24988918.