Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F24%3A10483892" target="_blank" >RIV/00216208:11110/24:10483892 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/24:10483892
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=nimL43owO9" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=nimL43owO9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.prdoa.2024.100267" target="_blank" >10.1016/j.prdoa.2024.100267</a>

Result language
angličtina
Original language name
Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report
Original language description
The Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by a microdeletion in the 17p11.2. region or a pathogenic variant of the RAI1 (retinoic acid-induced), which is located in the 17p11.2 area. In most cases, SMS is caused by a heterozygous de novo deletion. Sometimes inherited mutations of the RAI1 are described, suggesting an autosomal dominant inheritance. There is a broad spectrum of symptoms, including distinctive facial features, skeletal malformations, varying intellectual disability, speech, motor skills delay, sleep disturbances, and self-injurious or attention-seeking behaviors. Despite an extensive literature review, the manifestation of dystonia remains absent from documented cases. Dystonia represents a notable clinical symptom, the recognition of which may prompt the initiation of genetic testing and facilitate precise diagnostic assessment.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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