
Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype
Keywords: روند BCs; BCS; Brittle cornea syndrome; EDS type VI; Ehlers-Danlos syndrome type VI; EDTA; Ethylenediaminetetraacetic acid; PYR; Pyridinoline; DPYD; Deoxypyridinoline; Corneal fragility; ZNF469; Joint hypermobility; Scoliosis; Ehlers-Danlos syndrome type VI;