Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of the genes in this chr...

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Detalles Bibliográficos
Autores principales: Dale, Breanne, Modi, Bonnie MacKinnon, Jilderda, Sanne, McConnell, Beth, Hoang, Ny, Swaroop, Pooja, Falcon, Jhoan, Thiruvahindrapuram, Bhooma, Walker, Susan, Scherer, Stephen W., Stavropoulos, D. James, Drmic, Irene E., Carter, Melissa T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677976/
https://www.ncbi.nlm.nih.gov/pubmed/29263838
http://dx.doi.org/10.1038/s41525-017-0031-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677976/
https://www.ncbi.nlm.nih.gov/pubmed/29263838
http://dx.doi.org/10.1038/s41525-017-0031-6

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