Associated Papers
Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.
Perilli L et al.
Journal of Clinical Medicine, 2025
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual.
Schöning L et al.
Stem Cell Research, 2020
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
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