Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

BACKGROUND: Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndrome. Som...

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Detalles Bibliográficos
Autores principales: Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011332/
https://www.ncbi.nlm.nih.gov/pubmed/29951117
http://dx.doi.org/10.1186/s13039-018-0388-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011332/
https://www.ncbi.nlm.nih.gov/pubmed/29951117
http://dx.doi.org/10.1186/s13039-018-0388-y

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