| 1 | CRLF1, MCTHS |
| Crisponi syndrome: a new case with additional features and new mutation in CRLF1. | |
| Okur I, Tumer L, Crisponi L, Eminoglu FT, Chiappe F, Cinaz P, Yenicesu I, Hasanoglu A. | |
| Am J Med Genet A 146A(24):3237-9. No abstract available. 2008 | |
| 2 | CRLF1, MCTHS, CISS1 |
| Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1. | |
| Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. | |
| Am J Hum Genet 80(5):971-81. Epub 2007 Mar 30. 2007 | |
| 3 | CISS1, CRLF1, IL6ST, LIFR, MCTHS |
| Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. | |
| Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V. | |
| Am J Hum Genet 80(5):966-70. Epub 2007 Mar 13. 2007 | |