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| Untersuchte Arbeit: Seite: 22, Zeilen: 21 ff. |
Quelle: Katzaki 2009 Seite(n): 27, Zeilen: 2 ff. |
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| As we already mentioned before, many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretation problematic and genotypephenotype correlations uncertain. Identification of patients sharing a genomic rearrangement and having phenotypic features in common leads to greater [certainty in the pathogenic nature of the rearrangement and enables new syndromes to be defined.] | As we already mentioned before, many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretation problematic and genotype-phenotype correlations uncertain. Identification of patients sharing a genomic rearrangement and having phenotypic features in common leads to greater certainty in the pathogenic nature of the rearrangement and enables new syndromes to be defined. |
No hint is given that this text comes from another source. As we already mentioned before - maybe a scientific pluralis maiestatis? |
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