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Article

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.

European journal of medical genetics - 1 Jul 2021

Kolkiran Abdulkerim, Ürel-Demir Gizem, Şimşek-Kiper Pelin Özlem, Utine Gülen Eda

Abstract excerpt

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 the main features of the condition in the neonatal period. Patients experience cold-induced sweating attacks and progressive kyphoscoliosis in...

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PMID: 33910095
DOI: 10.1016/j.ejmg.2021.104229

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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