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8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting releva...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Rincon, Alejandra, Paez-Rojas, Paola, Suárez-Obando, Fernando
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6348808/
https://ncbi.nlm.nih.gov/pubmed/30733878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/7608348
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