Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F06%3A69" target="_blank" >RIV/00216208:11130/06:69 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
Original language description
Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation. The clinical phenotype is characterised by congenital microcephaly, mild dysmorphic facial appearance
Czech name
Nijmegen breakage syndrom (NBS) s neurologickými abnormalitami a bez chromosomální aberace
Czech description
Nijmegen breakage syndrom (NBS) s neurologickými abnormalitami

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/NR7916" target="_blank" >NR7916: Molecular basis of congenital microcephaly - using molecular genetics and molecular cytogenetic methods for detection of etiology of different types of microcephaly and evaluation of clinical and genetic prognosis</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2006
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Result description