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American Journal of Human Genetics|April 17, 2007
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, et al.
Clinical Genetics|March 13, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnosesAndrea Angius, Paolo Uva, Manuela Oppo, et al.
American Journal of Human Genetics|July 9, 2016
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaAndrea Angius, Paolo Uva, Insa Buers, et al.
Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
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