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The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau, PM; Kasperaviciute, D; Lu, JT; Burrage, LC; Kim, C; Hori, M; Powell, BR; ... Sisodiya, SM; + view all (2014) The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurology , 13 (1) pp. 44-58. 10.1016/S1474-4422(13)70265-5. Green open access

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Abstract

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals.

Type: Article
Title: The genetic basis of DOORS syndrome: an exome-sequencing study.
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/S1474-4422(13)70265-5
Publisher version: http://dx.doi.org/10.1016/S1474-4422(13)70265-5
Language: English
Additional information: Copyright © Campeau et al. Open Access article distributed under the terms of CC BY
Keywords: Adolescent, Carrier Proteins, Child, Child, Preschool, Craniofacial Abnormalities, Exome, Female, Hand Deformities, Congenital, Hearing Loss, Sensorineural, Humans, Infant, Intellectual Disability, Internationality, Male, Nails, Malformed, Phenotype, Sequence Analysis, DNA, Young Adult
UCL classification: UCL > Provost and Vice Provost Offices
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
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute for Global Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute for Global Health > Infection and Population Health
URI: https://discovery.ucl.ac.uk/id/eprint/1413631
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