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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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| Vydáno v: | BMC Med Genet |
|---|---|
| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2014
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| Témata: | |
| On-line přístup: | 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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