Article
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics - 1 Mar 2021
Maini Ilenia, Errichiello Edoardo, Caraffi Stefano Giuseppe, Rosato Simonetta, Bizzarri Veronica, Pollazzon Marzia, Trimarchi Gabriele, Contrò Gianluca, Cavirani Benedetta, Gelmini Chiara, Napoli Manuela, Moratti Claudio, Pascarella Rosario, Rizzi Susanna, Fusco Carlo, Zuffardi Orsetta, Garavelli Livia
Abstract excerpt
Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is an extremely rare autosomal recessive genetic disorder caused by variants in the MED25 gene. It is characterized by severe developmental delay and variable craniofacial, neurological, ocular, and cardiac anomalies. Since 2015, through whole exome sequencing, 20 patients have been described with common clinical features and biallelic variants in MED25, leading to a...
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