Journal article
Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
- Abstract:
-
El síndrome Cornelia de Lange (SCdL, OMIM #122470, #300590, #300882, #610759 y #614701) es un trastorno raro del neurodesarrollo que afecta a múltiples aparatos y sistemas, caracterizado por una facies distintiva, baja talla, anomalías en las extremidades y discapacidad intelectual. Desde la identificación del primer gen causal, NIPBL, hace veinte años, se han descrito multitud de variantes genéticas y se han asociado otros siete genes, la mayoría relacionados al complejo cohesina. Sin embarg...
Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Access Document
- Files:
-
-
(Preview, Version of record, pdf, 3.9MB, Terms of use)
-
- Publisher copy:
- 10.1038/s41467-021-23141-9
Authors
- Publisher:
- Nature Research
- Journal:
- Nature Communications More from this journal
- Volume:
- 12
- Issue:
- 1
- Pages:
- 2919-2919
- Publication date:
- 2021-05-18
- DOI:
- EISSN:
-
2041-1723
- ISSN:
-
2041-1723
- Language:
-
Spanish
- Keywords:
- Pubs id:
-
2373722
- Local pid:
-
pubs:2373722
- Source identifiers:
-
W3163271254
- Deposit date:
-
2026-02-15
- ARK identifier:
This ORA record was generated from metadata provided by an external service. It has not been edited by the ORA Team.
Terms of use
- Copyright date:
- 2021
- Licence:
- CC Attribution (CC BY)
If you are the owner of this record, you can report an update to it here: Report update to this record