De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first tim...

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Detalhes bibliográficos
Publicado no:Brain Sci
Main Authors: Brogna, Claudia, Milano, Valentina, Brogna, Barbara, Cristiano, Lara, Rovere, Giuseppe, De Sanctis, Roberto, Romeo, Domenico M., Mercuri, Eugenio, Zampino, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7823677/
https://ncbi.nlm.nih.gov/pubmed/33375380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci11010021
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