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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Detalles Bibliográficos
Autores principales: Walsh, D. M., Shah, S. H., Simpson, M. A., Morgan, N. V., Khaliq, S., Trembath, R. C., Mehdi, S. Q., Maher, E. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820470/
https://www.ncbi.nlm.nih.gov/pubmed/24278723
http://dx.doi.org/10.6064/2012/649090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820470/
https://www.ncbi.nlm.nih.gov/pubmed/24278723
http://dx.doi.org/10.6064/2012/649090

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