Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epil...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7813129/
https://ncbi.nlm.nih.gov/pubmed/33505690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3523
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados