Please use this identifier to cite or link to this item:
http://elea.unisa.it/xmlui/handle/10556/6582
Title: | Clinical characterization, genetic screening and genotype-phenotype associations in cerebellar and brainstem congenital defects |
Authors: | Nuovo, Sara Monteleone, Palmiero Vajro, Pietro |
Keywords: | Genetics;Cerebellum;Brainstem |
Issue Date: | 1-Oct-2020 |
Publisher: | Universita degli studi di Salerno |
Abstract: | Cerebellar and brainstem congenital defects (CBCDs) represent a wide spectrum of malformative disorders resulting from abnormal development of midbrain-hindbrain and characterised by high clinical and genetic heterogeneity. Due to the uncommonness of these conditions and the substantial under-recognition on brain imaging studies, limited information is available on their prevalence, genetic causes, natural history, and genotype-phenotype associations. Such a contingency of factors leads to uncertain prognosis and wrong counselling. .. [edited by the Author] |
Description: | 2018 - 2019 |
URI: | http://elea.unisa.it/xmlui/handle/10556/6582 http://dx.doi.org/10.14273/unisa-4647 |
Appears in Collections: | Medicina traslazionale dello sviluppo e dell’invecchiamento attivo |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
tesi_di_dottorato_S_Nuovo.pdf | tesi di dottorato S_Nuovo | 6,31 MB | Adobe PDF | View/Open |
abstract_S_Nuovo.pdf | abstract in ing a cura dell'Autore | 212,49 kB | Adobe PDF | View/Open |
presentazione pdf_S_Nuovo.pdf | presentazione Sara Nuovo | 5,16 MB | Adobe PDF | View/Open |
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