A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from...

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Main Authors: Walsh, D. M., Shah, S. H., Simpson, M. A., Morgan, N. V., Khaliq, S., Trembath, R. C., Mehdi, S. Q., Maher, E. R.
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2012
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3820470/
https://ncbi.nlm.nih.gov/pubmed/24278723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6064/2012/649090
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