Coffin-Siris syndrome (CSS) is a relatively frequent syndrome with developmental or cognitive delay, classically characterized by small or missing nails,and distinctive facial appearance, among several other signs. Since the discovery of mutations in ARID1B, a component of the BAF chromatin remodelling complex, as the main cause of the syndrome, our knowledge on diagnosis, natural history and management have greatly improved. In this webinar we aim to explore these recent developments.
Programa
Bienvenida e introducción – (5.00-5.05 pm)
- Speaker : André Reis
- From : University Hospital Erlangen, Erlangen, Germany
Clinical and molecular diagnosis in children
- Speaker : Georgia Vasileiou
- From : University Hospital Erlangen, Erlangen, Germany
ARID1B-related disorder in adults
- Speaker : Gijs Santen
- From : Leiden University Medical Center, Leiden, The Netherlands
CARE4ARID1B
- Speaker : Dagmar Wieczorek
- From : Medical Faculty and University Hospital, Düsseldorf, Germany
The patient’s perspective
- Speaker : Gal Lazarus, Ph.D.
- From : Department of Psychology, The Hebrew University of Jerusalem, Israel
Tiempo para el debate
Grabación
Powerpoint
Puedes consultar la presentación de PowerPoint del seminario web AQUÍ.