P56 Challenges in rare diseases diagnostic: aicardi-goutieres syndrome – a case report
P56 Challenges in rare diseases diagnostic: aicardi-goutieres syndrome – a case report
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Publisher
London: BMJ Publishing Group LTD
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Language
English
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Publisher
London: BMJ Publishing Group LTD
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Background and AimIn Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were identified, and almost 80% of them have a genetic cause. Many rare disorders are characterised by a broad diversity of common symptoms and signs leading to misdiagnosis and delaying treatment. Aicardi...
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Full title
P56 Challenges in rare diseases diagnostic: aicardi-goutieres syndrome – a case report
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TN_cdi_proquest_journals_2913032097
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2913032097
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ISSN
0003-9888
E-ISSN
1468-2044
DOI
10.1136/archdischild-2017-313273.144
