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A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome
Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofac...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2015
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4906526/ https://ncbi.nlm.nih.gov/pubmed/27617133 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1565267 |
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