The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Genome-wide analysis of copy number variants in 2,824 cases across the phenotypic spectrum of CAKUT sheds light on the genomic architecture of disease and identifies TBX6 as a driver for CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2019
|
| In: |
Nature genetics
Year: 2018, Jahrgang: 51, Heft: 1, Pages: 117-127 |
| ISSN: | 1546-1718 |
| DOI: | 10.1038/s41588-018-0281-y |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1038/s41588-018-0281-y Verlag, Volltext: https://www.nature.com/articles/s41588-018-0281-y 
|
| Verfasserangaben: | Miguel Verbitsky, Vladimir J. Lozanovski [und weitere] |
| Zusammenfassung: | Genome-wide analysis of copy number variants in 2,824 cases across the phenotypic spectrum of CAKUT sheds light on the genomic architecture of disease and identifies TBX6 as a driver for CAKUT subphenotypes in the 16p11.2 microdeletion syndrome. |
|---|---|
| Beschreibung: | Published online: 21 December 2018 Gesehen am 10.07.2019 |
| Beschreibung: | Online Resource |
| ISSN: | 1546-1718 |
| DOI: | 10.1038/s41588-018-0281-y |