Associated Papers
Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.
Perilli L et al.
Journal of Clinical Medicine, 2025
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Yilmaz Gulec E et al.
Clinical Genetics, 2022
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
A new case series of Crisponi syndrome in a Turkish family and review of the literature.
Bayraktar-Tanyeri B et al.
Clinical Dysmorphology, 2017
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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