Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

doi:10.1086/516843

Article

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

American journal of human genetics - 1 May 2007

Crisponi Laura, Crisponi Giangiorgio, Meloni Alessandra, Toliat Mohammad Reza, Nurnberg Gudrun, Usala Gianluca, Uda Manuela, Masala Marco, Hohne Wolfgang, Becker Christian, Marongiu Mara, Chiappe Francesca, Kleta Robert, Rauch Anita, Wollnik Bernd, Strasser Friedrich, Reese Thomas, Jakobs Cornelis, Kurlemann Gerd, Cao Antonio, Nurnberg Peter, Rutsch Frank

Abstract excerpt

Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed homozygos...

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Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

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