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Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Voermans, NC; Kleefstra, T; Gabreels-Festen, AA; Faas, BHW; Kamsteeg, E-J; Houlden, H; Laura, M; ... Reilly, MM; + view all (2012) Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , 17 (2) pp. 223-225. 10.1111/j.1529-8027.2012.00402.x.

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Type: Article
Title: Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion
DOI: 10.1111/j.1529-8027.2012.00402.x
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, MARIE-TOOTH-DISEASE, INFANCY
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 > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1356179
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