TY  - JOUR
AU  - Garcia, Patricia
AU  - Fernandez-Hernandez, Rita
AU  - Cuadrado, Ana
AU  - Coca, Ignacio
AU  - Gomez, Antonio
AU  - Maqueda, Maria
AU  - Latorre-Pellicer, Ana
AU  - Puisac, Beatriz
AU  - Ramos, Feliciano J
AU  - Sandoval, Juan
AU  - Esteller, Manel
AU  - Mosquera, Jose Luis
AU  - Rodriguez, Jairo
AU  - Pié, J
AU  - Queralt, Ethel
AU  - Losada, Ana
PY  - 2021
DO  - 10.1038/s41467-021-24808-z
UR  - http://hdl.handle.net/20.500.12105/13260
AB  - Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients. The...
LA  - eng
PB  - Nature Publishing Group
KW  - Cornelia de Lange Syndrome
KW  - Transcriptome
KW  - NIPBL/Scc2
TI  - Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.
TY  - journal article
ER  -