Ontology highlight
ABSTRACT:
SUBMITTER: Syrimis A
PROVIDER: S-EPMC6072148 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Syrimis Andreas A Nicolaou Nayia N Alexandrou Angelos A Papaevripidou Ioannis I Nicolaou Michael M Loukianou Eleni E Sismani Carolina C Malas Stavros S Christophidou-Anastasiadou Violetta V Tanteles George A GA
Molecular medicine reports 20180605 2
The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy number variants at the PAX6 locus and subsequently underwent PAX6 mutation screening. Sequence analysis of FOXC1 and PITX2 was performed in patients who did not carry a PAX6 mutation. The most common clinical features in the group of aniridia patients associated with aniridia were nystagmus, cataracts a ...[more]