Associated Papers
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Piras R et al.
Human Mutation, 2014
Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.
Tüysüz B et al.
Brain & Development, 2013
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.
González Fernández D et al.
Dermatology (basel, Switzerland), 2013
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
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.
Hahn AF et al.
Journal of the Neurological Sciences, 2010
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Yamazaki M et al.
American Journal of Medical Genetics. Part A, 2010
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
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.
Hahn AF et al.
Journal of the Neurological Sciences, 2006
Select a paper to view details