Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this condition. Variants in CEP85L, encoding a protein involved in...

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Detalles Bibliográficos
Autores principales: Contrò, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391275/
https://www.ncbi.nlm.nih.gov/pubmed/34440382
http://dx.doi.org/10.3390/genes12081208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391275/
https://www.ncbi.nlm.nih.gov/pubmed/34440382
http://dx.doi.org/10.3390/genes12081208

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