Ansari, M;
Poke, G;
Ferry, Q;
Williamson, K;
Aldridge, R;
Meynert, AM;
Bengani, H;
... FitzPatrick, DR; + view all
(2014)
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Journal of Medical Genetics
, 51
(10)
pp. 659-668.
10.1136/jmedgenet-2014-102573.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/jmedgenet-2014-102573 |
| Publisher version: | http://dx.doi.org/10.1136/jmedgenet-2014-102573 |
| Language: | English |
| Additional information: | This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Clinical genetics, Copy-number, Molecular genetics, De Lange Syndrome, Face, Genetic Association Studies, Genetic Heterogeneity, Humans, Mosaicism, Mutation, Phenotype |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1443027 |
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