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Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

✍ Scribed by Piras, Roberta; Chiappe, Francesca; Torraca, Ilaria La; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel-Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold-Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Çiğdem Seher; Kılıç, Esra; Boduroğlu, Koray; Kurtoglu, Selim; Manzur, Adnan Y; Onal, Eray Esra; Paderi, Enrica; Roche, Carmen Herrero; Tümer, Leyla; Unal, Sezin; Utine, Gülen Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank

Book ID: 125481193
Publisher: John Wiley and Sons
Year: 2014
Tongue: English
Weight: 308 KB
Volume: 35
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.22522

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## Abstract Cold‐induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in __CRLF1__ (cytokine receptor‐like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in __CRLF1__ also cause