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Stuve-Wiedemann syndrome: update and historical footnote.

Am J Med Genet 63:12-6 (1996)
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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 146A:1748-53 (2008)
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Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V

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

Am J Hum Genet 74:298-305 (2004)
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Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjo A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gurtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH

Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome.

J Exp Med 217:133568 (2020)
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