Syndrome de Sjögren-Larsson
Symptômes
Gestion de la maladie
Gènes analysés
ALDH3A2
Bibliographie
Bindu PS. Sjogren-Larsson Syndrome: Mechanisms and Management. Appl Clin Genet. 2020 Jan 7;13:13-24.
De Laurenzi V, Rogers GR, Tarcsa E, et al. Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients. J Invest Dermatol. 1997 Jul;109(1):79-83.
Weustenfeld M, Eidelpes R, Schmuth M, et al. Genotype and phenotype variability in Sjögren-Larsson syndrome. Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679.
