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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Cytogenet
Päätekijät: Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2018
Aiheet:
Case Report
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia