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Molecular genetics of 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals of this review is to summarize the current state of basic research studies of 22q11.2DS. It highlights efforts to understand the mechanis...

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Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: Morrow, Bernice E., McDonald-McGinn, Donna M., Emanuel, Beverly S., Vermeesch, Joris R., Scambler, Peter J.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6214629/
https://ncbi.nlm.nih.gov/pubmed/30380194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40504
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