Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10395955" target="_blank" >RIV/00064165:_____/19:10395955 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10395955
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=.rpTh~xDt9" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=.rpTh~xDt9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.parkreldis.2019.01.017" target="_blank" >10.1016/j.parkreldis.2019.01.017</a>

Result language
angličtina
Original language name
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
Original language description
This case report describes a 36-year-old female patient with complex neurological symptoms caused by a mutation in the recently described IRF2BPL gene. The phenotypic peculiarities are the relatively late age of onset of the disease and the finding of iron accumulation in the cores of gray matter, which has not been described so far.
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)

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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