PMID: 17986308
Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DPNovel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Br J Dermatol. 2008 Mar;158(3):611-3. Epub 2007 Nov 6., [PubMed]