New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype

Publication date: Available online 10 July 2021Source: Neurología (English Edition)Author(s): M.J. Sánchez-Soler, A.T. Serrano-Antón, V. López-González, E. Guillén-Navarro

Source: Neurologia - July 10, 2021 Category: Neurology Source Type: research