Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 1...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt‐Marie, Tammimies, Kristiina
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978403/
https://ncbi.nlm.nih.gov/pubmed/31730283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1013
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