Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A sub...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Verhagen, Judith M.A., de Leeuw, Nicole, Papatsonis, Dimitri N.M., Grijseels, Els W.M., de Krijger, Ronald R., Wessels, Marja W.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2015
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521057/
https://ncbi.nlm.nih.gov/pubmed/26279651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000431274
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