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Scientifica
Volume 2012 (2012), Article ID 649090, 6 pages
http://dx.doi.org/10.6064/2012/649090
Research Article

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

1Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
2Centre for Human Genetics, Sindh Institute of Urology and Transplantation, Karachi 74200, Pakistan
3Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK
4University of Health Sciences, Lahore, Pakistan
5West Midlands Regional Genetics Service, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TT, UK

Received 24 October 2012; Accepted 19 November 2012

Academic Editors: G. Lesinski and S. Zolotukhin

Copyright © 2012 D. M. Walsh et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Supplementary Material

Table listing associated phenotypes of known ichthyosis ABCA12 mutations [15].

  1. Supplementary Material