Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening

Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening

Cornelia de Lange Syndrome (CdLS) patients, who frequently carry a mutation in NIPBL, present an increased incidence of outflow tract (OFT)-related congenital heart defects (CHDs). <i>Nipbl+/-</i> mice recapitulate a number of phenotypic traits of CdLS patients, including a small body si...

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Bibliographic Details
Main Authors: Fanny Boulet, Gaelle Odelin, Alenca Harrington, Thomas Moore-Morris
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:International Journal of Molecular Sciences
Subjects:
Nipbl
cardiac valves
neural crest
Online Access:https://www.mdpi.com/1422-0067/24/21/15564

Internet

https://www.mdpi.com/1422-0067/24/21/15564

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