Article
Cognitive, adaptive, and behavioral features in Joubert syndrome.
American journal of medical genetics. Part A - 1 Dec 2016
Bulgheroni Sara, D'Arrigo Stefano, Signorini Sabrina, Briguglio Marilena, Di Sabato Maria Lucia, Casarano Manuela, Mancini Francesca, Romani Marta, Alfieri Paolo, Battini Roberta, Zoppello Marina, Tortorella Gaetano, Bertini Enrico, Leuzzi Vincenzo, Valente Enza Maria, Riva Daria
Abstract excerpt
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive cerebellar and brainstem malformation recognizable on brain imaging, the so-called molar tooth sign. The full spectrum of cognitive and behavioral phenotypes typical of JS is still far from being elucidated. The aim of this multicentric study was to define the clinical phenotype and neurobehavioral features of a large...
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