Refining the Phenotype Associated with GNB1 Mutations: Clinical Data on 18 Newly Identified Patients and Review of the Literature  

De Novo Variant in KIF26B Is Associated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy  

A Novel FBXO28 Frameshift Mutation in a Child with Developmental Delay, Dysmorphic Features, and Intractable Epilepsy: A Second Gene That May Contribute to the 1q41‐q4...