Article
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Archives of dermatology - 1 Jun 2011
Rajpopat Shefali, Moss Celia, Mellerio Jemima, Vahlquist Anders, Gånemo Agneta, Hellstrom-Pigg Maritta, Ilchyshyn Andrew, Burrows Nigel, Lestringant Giles, Taylor Aileen, Kennedy Cameron, Paige David, Harper John, Glover Mary, Fleckman Philip, Everman David, Fouani Mohamad, Kayserili Hulya, Purvis Diana, Hobson Emma, Chu Carol, Mein Charles, Kelsell David, O'Toole Edel
Abstract excerpt
OBJECTIVE: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. DESIGN: Multicenter, retrospective, questionnaire-based survey. SETTING: Dermatology research institute. PARTICIPANTS: Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis. MAIN OUTCOME MEASURES: Referring physicians were asked to...
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