SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, Khan A, Saima, Fabbiani A, Zguro K, Furini S, Mencarelli MA, Renieri A, Resciniti S, Peña-Guerra KA, Guzmán-Vega FJ, Arold ST, Ariani F, Khan SN.
Khan A, et al.
Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022.
Front Mol Neurosci. 2022.
PMID: 35782384
Free PMC article.