Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Jun Hee ChoSoojin HwangYoon Hae KwakMi-Sun YumGo Hun SeoJune-Young KohYoung Seok JuJi-Hee YoonMinji KangHyo-Sang DoSoyoung KimGu-Hwan KimHyunwoo BaeBeom-Hee LeePublished 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.