Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.
Kolkiran A, Ürel-Demir G, Şimşek-Kiper PÖ, Utine GE.
Kolkiran A, et al.
Eur J Med Genet. 2021 Jul;64(7):104229. doi: 10.1016/j.ejmg.2021.104229. Epub 2021 Apr 25.
Eur J Med Genet. 2021.
PMID: 33910095
Crisponi syndrome/Cold Induced Sweating Syndrome 1 (CS/CISS1) is a rare, autosomal recessive, multisystemic disease. Hyperthermia attacks, abnormal contractions in the muscles of the face and oropharynx, respiratory distress, camptodactyly, and swallowing difficulty are th …
Crisponi syndrome/Cold Induced Sweating Syndrome 1 (CS/CISS1) is a rare, autosomal recessive, multisystemic disease. Hyperthermia attacks, a …