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
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
American journal of human genetics 2005;76(5):794-803.
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