Article
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jun 2018
Ajmone Paola F, Avignone Sabrina, Gervasini Cristina, Giacobbe Antonella, Monti Fedrico, Costantino Antonella, Esposito Susanna, Marchisio Paola, Triulzi Fabio, Milani Donatella
Abstract excerpt
Rubinstein-Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and great toes are particularly distinctive. Its genetic basis is only partially known, with a detection rate of approximately 65-70%; specifically, microdeletions or mutations...
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