Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
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
Spectrum of PAH gene mutations and genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0047
Abstract: Abstract Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in the PAH gene among the Turkey’s Central Anatolian region. Methods Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and… read more here.
Keywords: gene mutations; mutations genotype; genotype phenotype; pah gene ... See more keywords