Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

Author:

Ajmone Paola F.1ORCID,Avignone Sabrina2,Gervasini Cristina3,Giacobbe Antonella1,Monti Fedrico1,Costantino Antonella1,Esposito Susanna4,Marchisio Paola5,Triulzi Fabio2,Milani Donatella5

Affiliation:

1. Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Milan Italy

2. Department of Neuroradiology, Department of Pathophysiology and Transplantation; Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Milan Italy

3. Medical Genetics, Department of Health Sciences; Università degli Studi di Milano; Milan Italy

4. Pediatric Clinic, Università degli Studi di Perugia; Perugia Italy

5. Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation; Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Milan Italy

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Reference46 articles.

1. Achenbach , T. M. Rescorla , L. A. 2001 ASEBA University of Vermount (USA), Research Center for Children, Youth and Families

2. Dandy-walker malfomation in Rubinstein-tayby syndrome: A rare association;Agarwal;Clinical Dysmorphology,2002

3. Communication, cognitive development and behaviour in children with Cornelia de Lange Syndrome (CdLS): Preliminary results;Ajmone;American Journal Medical Genetics,2014

4. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP;Bartsch;Journal of Medical Genetics,2002

5. Growth charts for individuals with Rubinstein-Taybi syndrome;Beets;American Journal of Medical Genetics A,2014

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