Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey
Mol Genet Genomic Med. 2024 Oct;12(10):e70027. doi: 10.1002/mgg3.70027. ABSTRACT BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal-recessive condition, also …