Crisponi/cold induced sweating syndrome type 1 (CS/CISS1; Mendelian Inheritance in Man [MIM]#272430), a rare autosomal recessive disorder, ispossibly under-recognised due to its complex phenotype with likely misinterpretation of symptoms. Worldwide, there are fewer than 100 reported cases and we present the second Indian patient with a CRLF1 genetic mutation.
Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family
Persico Ivana;Crisponi Laura
2020
Abstract
Crisponi/cold induced sweating syndrome type 1 (CS/CISS1; Mendelian Inheritance in Man [MIM]#272430), a rare autosomal recessive disorder, ispossibly under-recognised due to its complex phenotype with likely misinterpretation of symptoms. Worldwide, there are fewer than 100 reported cases and we present the second Indian patient with a CRLF1 genetic mutation.File in questo prodotto:
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