Deletions and loss-of-function variants in TP63 associated with orofacial clefting

We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analysis. Subsequently, we analyzed TP63 in a cohort of 1072 individuals affected with OFC and 706 population-based controls u...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Khandelwal, Kriti D., van den Boogaard, Marie-José H., Mehrem, Sarah L., Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A. L. M., Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C., Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U., Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E. L., van Bokhoven, Hans
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777535/
https://ncbi.nlm.nih.gov/pubmed/30850703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0370-0
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars