16902423 |
ABCA12 is the major harlequin ichthyosis gene
Stephens, KG,
Taylor, AE,
Martin, M,
O'Toole, EA,
Hill, T,
Wolf, R,
Bourn, D,
Mehta, L,
Cullup, T,
Wilroy, RS,
DeLozier, C,
Graham, R,
Mein, CA,
Kelsell, DP,
Norgett, EE,
Fleckman, P,
Goodyear, H,
Sheridan, E,
Barton, S,
Thomas, AC,
Watson, RM,
Sprecher, E,
Burrows, N,
Slavotinek, A,
Dale, BA
|
J. Invest. Dermatol. |
2006 |
15756637 |
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
Cullup, T,
Tadini, G,
Stephens, KG,
Witt, DR,
O'Toole, EA,
Unsworth, H,
Ilchyshyn, A,
Mallory, SB,
Taylor, AE,
Kennedy, CT,
Teh, MT,
Harper, JI,
Sybert, VP,
Mein, CA,
Kelsell, DP,
Norgett, EE,
North, BV,
Fleckman, P,
Goodyear, H,
Leigh, IM,
Eady, RA,
Sprecher, E,
Dopping-Hepenstal, PJ,
Moss, C,
Young, BD,
Dale, BA,
Paige, D
|
Am. J. Hum. Genet. |
2005 |
19664001 |
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
Castiglia, D,
Zambruno, G,
Pisaneschi, E,
Sommi, M,
Magnani, C,
Covaciu, C,
Fischer, J,
Castori, M
|
Clin. Genet. |
2009 |