8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including se...

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Detalles Bibliográficos
Autores principales: Catusi, Ilaria, Garzo, Maria, Capra, Anna Paola, Briuglia, Silvana, Baldo, Chiara, Canevini, Maria Paola, Cantone, Rachele, Elia, Flaviana, Forzano, Francesca, Galesi, Ornella, Grosso, Enrico, Malacarne, Michela, Peron, Angela, Romano, Corrado, Saccani, Monica, Larizza, Lidia, Recalcati, Maria Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146486/
https://www.ncbi.nlm.nih.gov/pubmed/33925474
http://dx.doi.org/10.3390/genes12050652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146486/
https://www.ncbi.nlm.nih.gov/pubmed/33925474
http://dx.doi.org/10.3390/genes12050652

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