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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Detalles Bibliográficos
Autores principales: Brogna, Claudia, Milano, Valentina, Brogna, Barbara, Cristiano, Lara, Rovere, Giuseppe, De Sanctis, Roberto, Romeo, Domenico M., Mercuri, Eugenio, Zampino, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823677/
https://www.ncbi.nlm.nih.gov/pubmed/33375380
http://dx.doi.org/10.3390/brainsci11010021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823677/
https://www.ncbi.nlm.nih.gov/pubmed/33375380
http://dx.doi.org/10.3390/brainsci11010021

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