Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1.
Komlosi K, Glocker C, Hsu-Rehder HH, Alter S, Kopp J, Hotz A, Zimmer AD, Hausser-Siller I, Sandhoff R, Oji V, Fischer J.
Komlosi K, et al. Among authors: fischer j.
J Invest Dermatol. 2024 Apr 18:S0022-202X(24)00303-8. doi: 10.1016/j.jid.2024.03.041. Online ahead of print.
J Invest Dermatol. 2024.
PMID: 38642798