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Craniofacial Phenotypes and Genetics of DiGeorge Syndrome

The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of chromosome 22q11.2 causes DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS/VCFS are associated with prevalent cardia...

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Detalles Bibliográficos
Autor principal: Funato, Noriko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149807/
https://www.ncbi.nlm.nih.gov/pubmed/35645294
http://dx.doi.org/10.3390/jdb10020018