In summary , our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia , thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations .
O O O O O O O O O O O O O B-GeneOrGeneProduct O O O O I-DiseaseOrPhenotypicFeature O O B-DiseaseOrPhenotypicFeature O O O O O O O O O O O B-GeneOrGeneProduct O O