Matches in UGent Biblio for { <https://biblio.ugent.be/publication/533767#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B172232.
- aggregation creator B172233.
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- aggregation creator B172243.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2008".
- aggregation format "application/pdf".
- aggregation hasFormat 533767.bibtex.
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- aggregation isPartOf urn:issn:0340-6717.
- aggregation language "eng".
- aggregation publisher "SPRINGER, 233 SPRING ST, NEW YORK, NY 10013 USA".
- aggregation title "Identification of copy number variants associated with BPES-like phenotypes".
- aggregation abstract "Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a well-characterized rare syndrome that includes an eyelid malformation associated with (type I) or without premature ovarian failure (type II). Patients with typical BPES have four major characteristics: blepharophimosis, ptosis, epicanthus inversus and telecanthus. Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for the majority of both types of BPES. However, many patients with BPES-like features, i.e., having at least two major characteristics of BPES, have an unidentified cause. Here, we report on a group of 27 patients with BPES-like features, but without an identified genetic defect in the FOXL2 gene or flanking region. These patients were analyzed with whole-genome high-density arrays in order to identify copy number variants (CNVs) that might explain the BPES-like phenotype. In nine out of 27 patients (33%) CNVs not previously described as polymorphisms were detected. Four of these patients displayed psychomotor retardation as an additional clinical characteristic. In conclusion, we demonstrate that BPES-like phenotypes are frequently caused by CNVs, and we emphasize the importance of whole-genome copy number screening to identify the underlying genetic causes of these phenotypes.".
- aggregation authorList BK423391.
- aggregation endPage "498".
- aggregation issue "5".
- aggregation startPage "489".
- aggregation volume "124".
- aggregation aggregates 535158.
- aggregation isDescribedBy 533767.
- aggregation similarTo s00439-008-0574-9.
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