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Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level, like in the case of monozygotic twins, phenotypes are expressed differently in 22q11.2...

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Detalles Bibliográficos
Autor principal: Karbarz, Małgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563277/
https://www.ncbi.nlm.nih.gov/pubmed/32842603
http://dx.doi.org/10.3390/genes11090977