Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis by Kelsell David P, Norgett Elizabeth E, Unsworth Harriet, Teh Muy-Teck, Cullup Thomas, Mein Charles A, Dopping-Hepenstal Patricia J, Dale Beverly A, Tadini Gianluca, Fleckman Philip, Stephens Karen G, Sybert Virginia P, Mallory Susan B, North Bernard V, Witt David R, Sprecher Eli, Taylor Aileen E M, Ilchyshyn Andrew, Kennedy Cameron T, Goodyear Helen, Moss Celia, Paige David, Harper John I, Young Bryan D, Leigh Irene M, Eady Robin A J, O'Toole Edel A in American journal of human genetics (2005).

[PMID: 15756637] PubMed


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