Recent Advances in the Genetics and Management of Harlequin Ichthyosis

Author:

Ahmed Hera1,O'Toole Edel A.2

Affiliation:

1. Department of Dermatology; Barts Health National Health Service Trust; Whitechapel; London UK

2. Centre for Cutaneous Research; Blizard Institute; Barts and the London School of Medicine and Dentistry; Queen Mary University of London; London UK

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Reference51 articles.

1. O'Toole EA Kelsell DP Harlequin ichthyosis Irvine AD Hoeger PH Albert CY Harper's textbook of pediatric dermatology Oxford Wiley-Blackwell 10.1002/9781444345384.ch13.

2. Autosomal recessive congenital ichthyosis;Fischer;J Invest Dermatol,2009

3. Richard G Bale SJ Autosomal recessive congenital ichthyosis Pagon RA Adam MP Bird TD GeneReviews Seattle University of Washington http://www.ncbi.nlm.nih.gov/books/NBK1420/

4. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans;Radner;PLoS Genet,2013

5. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans;Grall;Nat Genet,2012

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