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The Genetics and Epigenetics of 22q11.2 Deletion Syndrome

Chromosome 22q11.2 deletion syndrome (22q11.2del) is a complex, multi-organ disorder noted for its varying severity and penetrance among those affected. The clinical problems comprise congenital malformations; cardiac problems including outflow tract defects, hypoplasia of the thymus, hypoparathyroi...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Du, Qiumei, de la Morena, M. Teresa, van Oers, Nicolai S. C.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7016268/
https://ncbi.nlm.nih.gov/pubmed/32117416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01365
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