Open AccessHarlequin Ichthyosis
Author(s) -
Shefali Rajpopat,
Celia Moss,
Jemima E. Mellerio,
Anders Vahlquist,
Agneta Gånemo,
Maritta Hellström-Pigg,
A. Ilchyshyn,
Nigel Burrows,
G.G. Lestringant,
Aileen Taylor,
Cameron Kennedy,
David G. Paige,
John Harper,
Mary Glover,
Philip Fleckman,
David B. Everman,
Mohamad Fouani,
Hülya Kayserili,
Diana Purvis,
Emma Hobson,
Carol Chu,
Charles A. Mein,
David P. Kelsell,
Edel A. O’Toole
Publication year - 2011
Publication title -
archives of dermatology
Language(s) - English
Resource type - Journals
eISSN - 1538-3652
pISSN - 0003-987X
DOI - 10.1001/archdermatol.2011.9
Subject(s) - medicine , congenital ichthyosis , compound heterozygosity , ichthyosis , pediatrics , sepsis , dermatology , respiratory failure , retrospective cohort study , surgery , mutation , biochemistry , chemistry , gene
To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients.
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