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Distal 22q11.2 Microduplication: Case Report and Review of the Literature
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chro...
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| Publié dans: | Child Neurol Open |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
SAGE Publications
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5673001/ https://ncbi.nlm.nih.gov/pubmed/29147671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X17737651 |
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