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). Nipbl+/- mice recapitulate a number of phenotypic traits of CdLS patients, including a small body size and cardiac defe...

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Detalles Bibliográficos
Autores principales: Boulet, Fanny, Odelin, Gaelle, Harrington, Alenca, Moore-Morris, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648932/
https://www.ncbi.nlm.nih.gov/pubmed/37958548
http://dx.doi.org/10.3390/ijms242115564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648932/
https://www.ncbi.nlm.nih.gov/pubmed/37958548
http://dx.doi.org/10.3390/ijms242115564

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