Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Cesarato N, Wehner M, Ghughunishvili M, Schmidt A, Axt D, Thiele H, Lentze MJ, Has C, Geyer M, Basmanav FB, et al. Am J Med Genet A. 2021 Dec; 185(12):3900-3904. Epub 2021 Jul 27.