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Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Abstract:

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings.

METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (thre...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1111/jir.12787

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Role:
Author
ORCID:
0000-0001-9489-4022
Publisher:
Wiley
Journal:
Journal of Intellectual Disability Research More from this journal
Volume:
64
Issue:
12
Pages:
956-969
Publication date:
2020-10-09
Acceptance date:
2020-09-15
DOI:
EISSN:
1365-2788
ISSN:
0964-2633
Pmid:
33034087
Language:
English
Keywords:
Pubs id:
1137854
Local pid:
pubs:1137854
Deposit date:
2020-10-27

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