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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Abstract:

Background: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. Methods: We screened 163 affected individuals for coding region mutati...

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Authors


Williamson, K More by this author
Aldridge, R More by this author
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Publisher:
BMJ Publishing Group
Journal:
Journal of Medical Genetics
Volume:
51
Issue:
10
Pages:
659-668
Publication date:
2014
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:57e64891-0efb-4ddd-a616-76cee1cd8b8d
Source identifiers:
492377
Local pid:
pubs:492377
Language:
English

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