Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

ConclusionOur results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI.

Source: Molecular Genetics & Genomic Medicine - January 1, 2019 Category: Genetics & Stem Cells Authors: Dulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, Naseebullah Kakar, Jamil Ahmad, Salem Alawbathani, Roswitha Plank, Katja Eckl, Birgit Krabichler, Janine Altm üller, Peter Nürnberg, Johannes Zschocke, Guntram Borck, Matthias Schmuth Tags: ORIGINAL ARTICLE Source Type: research