Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a 3 Mb deletion while others have a nested 1.5 Mb deletion, but rare atypical del...

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Udgivet i:BMC Med Genet
Main Authors: Hwang, Vicki J, Maar, Dianna, Regan, John, Angkustsiri, Kathleen, Simon, Tony J, Tassone, Flora
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4258952/
https://ncbi.nlm.nih.gov/pubmed/25312060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0106-5
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