Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence‐Farazi Cerebellar Ataxia Syndrome
Year: 2026
Type: article
DOI: 10.1002/ajmg.a.70125
Institutions: Boston Children's Hospital, Harvard University, University of Southern Denmark, University Hospital Leipzig, Leipzig University, Baylor College of Medicine, Lucile Packard Children's Hospital, University of Rijeka, Düsseldorf University Hospital, Heinrich Heine University Düsseldorf, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, National Guard Health Affairs, University of Management and Technology, Sidra Medical and Research Center, Broad Institute, Massachusetts Institute of Technology
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W7135203853