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References

These sources were used to develop the Genetics Home Reference gene summary on the CRLF1 gene.

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. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet. 2007 May;80(5):971-81. Epub 2007 Mar 30. PubMed citation
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. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. Am J Hum Genet. 2007 May;80(5):966-70. Epub 2007 Mar 13. PubMed citation
Elson GC, Graber P, Losberger C, Herren S, Gretener D, Menoud LN, Wells TN, Kosco-Vilbois MH, Gauchat JF. Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family. J Immunol. 1998 Aug 1;161(3):1371-9. PubMed citation
Entrez Gene
Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG. Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. J Neurol Sci. 2006 Dec 1;250(1-2):62-70. Epub 2006 Sep 6. PubMed citation
Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H. Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. J Neurol Sci. 2010 Jun 15;293(1-2):68-75. doi: 10.1016/j.jns.2010.02.028. Epub 2010 Apr 18. PubMed citation
Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F. Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. Eur J Hum Genet. 2011 May;19(5):525-33. doi: 10.1038/ejhg.2010.253. Epub 2011 Feb 16. PubMed citation
Kass DJ. Cytokine-like factor 1 (CLF1): life after development? Cytokine. 2011 Sep;55(3):325-9. doi: 10.1016/j.cyto.2011.05.021. Epub 2011 Jun 28. Review. PubMed citation
Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H. Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. Am J Hum Genet. 2003 Feb;72(2):375-83. Epub 2002 Dec 31. PubMed citation


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