Posterior Amorphous Corneal Dystrophy: New Chromosomal Breakpoints in the Small Leucine-Rich Proteoglycan-Coding Region
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DOI: 10.1097/ico.0000000000002961
Abstract: Purpose: The purpose of this study was to report the clinical features and describe the results obtained by multimodal corneal imaging of a patient with novel chromosomal breakpoints of the 12q21.33 locus. Methods: This study… read more here.
Keywords: leucine rich; rich proteoglycan; chromosomal breakpoints; microscopy ... See more keywords
Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region
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DOI: 10.3390/ijms23063347
Abstract: Improvements in microarray-based comparative genomic hybridization technology have allowed for high-resolution detection of genome wide copy number alterations, leading to a better definition of rearrangements and supporting the study of pathogenesis mechanisms. In this study,… read more here.
Keywords: cases rearrangements; continuum fragility; rearrangements defines; chromosomal breakpoints ... See more keywords