A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome - Shin, Jun-Oh; Roh, Dongyoung; Shin, Kihyuk; Kim, Woo-Il; Yang, Min-Young; Lee, Won-Ku; Kim, Hoon-Soo; Kim, Byung-Soo; Kim, Moon-Bum; Ko, Hyun-Chang (Annals of dermatology, 2022)
Keywords: Case Report; 피부과학; Alopecia; Missense mutation; Photophobia; Ichthyosis