Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.
César Augusto Pinheiro Ferreira AlvesO SherbiniF D'ArcoDora Batia Dyne SteelManju A KurianF C RadioGiovanbattista Giovanni Battista FerreroDiana CarliTartaglia MarcoTuğçe B BalcıN N Powell-HamiltonS A Schrier VerganoH ReutterJulia HoefeleR GünthnerElizabeth R RoederR O LittlejohnDavor LesselSabine PetersC KentrosKwame Anyane-YeboaClaudia B CatarinoSaadet Mercimek-MahmutogluJ DeneckeMichael J LyonsFlorentine RadelfahrElizabeth Joyce BhojLaura BryantAdeline VanderverPublished in: AJNR. American journal of neuroradiology (2022)
affected individuals are related to brain features, including a small posterior fossa as well as dysgenesis of the corpus callosum, cortical developmental abnormalities, and deformity of lateral ventricles.