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

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> 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 <i>CEP85L</i>, encoding a p...

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Bibliographic Details
Main Authors: Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
<i>CEP85L</i>
lissencephaly 10
posterior lissencephaly
double-cortex
abnormalities of cortical development
whole exome sequencing
Online Access:https://www.mdpi.com/2073-4425/12/8/1208

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https://www.mdpi.com/2073-4425/12/8/1208

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