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Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism

Identifieur interne : 005334 ( Main/Exploration ); précédent : 005333; suivant : 005335

Development and behaviour in Marshall–Smith syndrome: an exploratory study of cognition, phenotype and autism

Auteurs : I. D. C. Van Balkom [Pays-Bas] ; A. Shaw [Royaume-Uni] ; P. J. Vuijk [Pays-Bas] ; M. Franssens [Pays-Bas] ; H. W. Hoek [Pays-Bas, États-Unis] ; R. C. M. Hennekam [Pays-Bas, Royaume-Uni]

Source :

RBID : ISTEX:48D99B46B80B40826263FBFAFD4CF14B02CCFBF5

Abstract

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 autism in six patients.

Url:
DOI: 10.1111/j.1365-2788.2011.01451.x


Affiliations:


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