article_metadata: Olivia A Zin Luiza M Neves Fabiana L Motta Daltro C Junior Daniela P Cunha Bruna N S Agonigi Jocieli Malacarne Ana Paula S Rodrigues Gabriela D Rodrigues Maria Luisa C Tinoco Dafne D G Horovitz Adriana B Carvalho Andrea A Zin Zilton F M Vasconcelos Juliana M Ferraz Sallum
article_metadata: 10.3390/genes16010091
article_metadata: Genes (Basel)
article_metadata: 2025 Jan 16;16(1):91.
article_metadata: nance–horan syndrome x-linked disease congenital cataract pediatric cataract
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39858638/
article_metadata: Cataract / congenital Cataract / genetics Cataract / pathology Genetic Association Studies Pedigree
article_metadata: Cataract / congenital Cataract / genetics Cataract / pathology Genetic Association Studies Pedigree Case Reports Acyltransferases / genetics Adult Child Child, Preschool Exome Sequencing Female Genetic Diseases, X-Linked / genetics Genetic Diseases, X-Linked / pathology Genetic Testing Heterozygote Humans Male Membrane Proteins Mutation Nuclear Proteins / genetics Phenotype Tooth Abnormalities / genetics Tooth Abnormalities / pathology NHS protein, human Acyltransferases Nuclear Proteins Membrane Proteins Nance-Horan syndrome
article_metadata: PMC11765327
article_metadata: 39858638
article_metadata: Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant
article_metadata: 2025