Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s13312-020-2042-0.pdf
Reference6 articles.
1. Piras R, Chiappe F, Torraca IL, et al. Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. Hum Mutat. 2014;35:424–33.
2. Crisponi L, Crisponi G, Meloni A, et al. 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;80:971–81.
3. Thomas N, Danda S, Kumar M, et al. Crisponi syndromein an Indian patient: A rare differential diagnosis for neonatal tetanus. Am J Med Gene A. 2008;146A:2831–4.
4. Buers I, Persico I, Schoning L, et al. Crisponi/cold induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Clin Genet. 2020;97:209–21.
5. Crisponi G. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome? Am J Med Genet. 1996;62:365–71.
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