Associated Papers
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Piras R et al.
Human Mutation, 2014
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
Herholz J et al.
European Journal of Human Genetics : Ejhg, 2011
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Crisponi L et al.
American Journal of Human Genetics, 2007
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