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Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex. In approximately 70% of CdLS patients, pathogenic NIPBL variants are detected and 15% of them are predicted to affect splicing....
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| Veröffentlicht in: | Front Genet |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6053508/ https://ncbi.nlm.nih.gov/pubmed/30057591 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00255 |
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