PMID: 18284401
Akiyama M, Sakai K, Hatamochi A, Yamazaki S, McMillan JR, Shimizu HNovel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.
Br J Dermatol. 2008 Apr;158(4):864-7. Epub 2008 Feb 16., [PubMed]