APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement...

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Detalles Bibliográficos
Autores principales: Privitera, Flavia, Piccini, Flavia, Recalcati, Maria Paola, Presi, Silvia, Mazzola, Silvia, Carrera, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379344/
https://www.ncbi.nlm.nih.gov/pubmed/37510409
http://dx.doi.org/10.3390/genes14071505

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379344/
https://www.ncbi.nlm.nih.gov/pubmed/37510409
http://dx.doi.org/10.3390/genes14071505

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