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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2012
Assuntos:
Research Article
Acesso em linha: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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