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harlequin type ichtyosis congenita

MIM.242500

Thursday 31 March 2005

Etiology

- germilne mutations in ABCA12

References

- Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, E M Taylor A, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O’toole EA. Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis. Am J Hum Genet. 2005 Mar 8;76(5) PMID: 15756637