Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
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DOI: 10.1002/mgg3.539
Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear… read more here.
Keywords: mutations genotype; congenital ichthyosis; unknown mutations; recessive congenital ... See more keywords