关键词: Nance–Horan syndrome X-autosome translocation X-linked disease congenital cataract skewed X inactivation
Mesh : Abnormalities, Multiple / genetics Adult Cataract / congenital genetics Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 1 / genetics Chromosomes, Human, X / genetics Female Genetic Diseases, X-Linked / genetics Humans In Situ Hybridization, Fluorescence Karyotyping Membrane Proteins Nuclear Proteins / genetics Oligonucleotide Array Sequence Analysis Pedigree Real-Time Polymerase Chain Reaction Tooth Abnormalities / genetics Translocation, Genetic / genetics X Chromosome Inactivation / genetics
来 源:
DOI:10.1080/13816810.2017.1363245
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