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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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| Publicado no: | Am J Med Genet C Semin Med Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | 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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