COLD-INDUCED SWEATING SYNDROME 1

BACKGROUND Mutations in the cytokine receptor-like factor 1 (CRLF1) gene are responsible for Crisponi/Cold-induced Sweat Syndrome… (More)

We here report a family from Libya with three siblings suffering from early onset achalasia born to healthy parents. We analyzed… (More)

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating at cold… (More)

Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1… (More)

Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular… (More)