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Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been reported in the literature; however, pure distal...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Bosfield, Kerri, Diaz, Jullianne, Leon, Eyby
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8215960/
https://ncbi.nlm.nih.gov/pubmed/34177432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000513453
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