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van Balkom, I. D. C.; Shaw, A.; Vuijk, P. J.; Franssens, M.; Hoek, H. W.; Hennekam, R. C. M. – Journal of Intellectual Disability Research, 2011
Background: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and…
Descriptors: Mental Retardation, Autism, Developmental Delays, Communication Skills

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