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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Clin Case Rep
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: John Wiley and Sons Inc. 2020
Θέματα:
Case Reports
Διαθέσιμο Online: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
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