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Stuve-Wiedemann syndrome

MIM.601559 5p13.1

Monday 16 June 2008

Stuve-Wiedemann syndrome (STWS), also known as neonatal Schwartz-Jampel syndrome type 2 (SJS2), is caused by mutation in the leukemia inhibitory factor receptor gene (LIFR) (MIM.151443) on chromosome 5p13.

References

- Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC. Long-term follow-up in Stuve-Wiedemann syndrome: A clinical report. Am J Med Genet A. 2008 Jun 10. PMID: #18546280#