Mutations in ABCA12 underlie the severe congenital skin disease harlequin chthyosis

DP Kelsell, EE Norgett, H Unsworth, MT Teh, T Cullop, CA Mein, PJ Dopping-Hepenstal, BA Dale, G Tadini, P Fleckman, KG Stephens, VP Sybert, SB Mallory, BV North, DR Witt, E Sprecher, AE Taylor, A Ilchyshvn, CT Kennedy, Helen GoodyearCelia Moss, D Paige, JI Harper, BD Young, IM Leigh, RA Eady, EA O'Toole

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Medicine & Life Sciences