Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

Gulec, EY; Turgut, GT; Gezdirici, A; Karaman, V; Ozturk, FN; Avci, S; Kalayci, T; Senturk, L; Ayaz, A; Kayserili, H; Uyguner, ZO; Altunoglu, U

Gulec, EY (通讯作者)，Istanbul Medeniyet Univ, Dept Med Genet, Med Sch, North Campus, TR-34700 Istanbul, Turkey.;Gulec, EY (通讯作者)，Istanbul Gortepe Prof Dr Suleyman Yalcin City Hos, Dept Med Genet, TR-34722 Istanbul, Turkey.

CLINICAL GENETICS, 2022; 102 (3): 201

Abstract

Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impai......

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