Article
Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.
Psychiatric genetics - 1 Jun 2017
Curie Aurore, Lesca Gaëtan, Bussy Gérald, Manificat Sabine, Arnaud Valérie, Gonzalez Sibylle, Revol Olivier, Calender Alain, Gérard Daniel, des Portes Vincent
Abstract excerpt
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability....
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