The Genetics and Epigenetics of 22q11.2 Deletion Syndrome

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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Bibliographic Details
Main Authors: Qiumei Du, M. Teresa de la Morena, Nicolai S. C. van Oers
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
22q11.2 deletion syndrome
DiGeorge syndrome
TBX1
noncoding RNAs
microRNAs
epigenetics
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01365/full

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