Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Jun Hee Cho Soojin HwangYoon Hae KwakMi-Sun YumGo Hun SeoJune-Young KohYoung Seok JuJi-Hee YoonMinji KangHyo-Sang DoSoyoung KimGu-Hwan KimHyunwoo BaeBeom-Hee Lee

Published in: Molecular genetics & genomic medicine (2024)

All three patients exhibited variable phenotypes and disease severity. This research enriches our understanding of clinical and genetic aspects of CIPA, highlighting variable phenotypes and disease severity.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
genome wide
chronic pain
prognostic factors
peritoneal dialysis
case report
copy number
pain management
spinal cord
patient reported outcomes
spinal cord injury