Cargando…
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....
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053508/ https://www.ncbi.nlm.nih.gov/pubmed/30057591 http://dx.doi.org/10.3389/fgene.2018.00255 |