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Developmental Trajectories in 22q11.2 Deletion

Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,000–4,000 live births and involving haploinsufficiency of ∼50 genes resulting in a multisystem disorder. Phenotypic expression is highly variable and ranges from sev...

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Bibliografski detalji
Izdano u:Am J Med Genet C Semin Med Genet
Glavni autori: Swillen, Ann, McDonald-McGinn, Donna M.
Format: Artigo
Jezik:Inglês
Izdano: 2015
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5061035/
https://ncbi.nlm.nih.gov/pubmed/25989227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31435
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