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A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation

✍ Scribed by Moortgat, Stephanie; Benoit, Valerie; Deprez, Marie; Charon, Anne; Maystadt, Isabelle


Book ID
123339482
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
774 KB
Volume
57
Category
Article
ISSN
1769-7212

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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