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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Publicat a:Mol Cytogenet
Autors principals: Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6011332/
https://ncbi.nlm.nih.gov/pubmed/29951117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0388-y
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