Publications
Export 2 results:
Author Title [ Year] Filters: Keyword is Muscle Hypotonia and Author is Lalani, Seema R [Clear All Filters]
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).