Malignant Intracranial Germioma in Smith-Lemli-Opitz Syndrome: Cholesterol Homeostasis Possibly Connecting Morphogenesis and Cancer Developlment.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F08%3A%230000275" target="_blank" >RIV/65269705:_____/08:#0000275 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/08:00040047
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Malignant Intracranial Germioma in Smith-Lemli-Opitz Syndrome: Cholesterol Homeostasis Possibly Connecting Morphogenesis and Cancer Developlment.
Original language description
Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. To date, predisposition for tumor development is not considered a feature associated with this syndrome. Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report ofassociation of this syndrome with malignant intracranial germ-cell tumor.
Czech name
Maligní intrakraniální novotvar ze zárodečných buněk - syndrom Smith-Lemli-Opitz: Cholesterol v homeostazích, vývoj morfogeneze karcinomu.
Czech description
Smith-Lemli-Opitz syndrom je vzácné hereditární onemocnění charakterizované deficitem 7-dehydrocholesterol reduktasy. V klinickém obraze dominují prenatální a postnatální strukturální i funkční abnormity a malformace. Zde popisujeme asociaci tohoto sy sintrakraniálním germinomem.
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/1A8709" target="_blank" >1A8709: In vitro separation and molecular analysis of graft-versus-host-specific and graft-versus-tumor-specific T cells</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2008
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Pediatric Hematology/Oncology
ISSN
1077-4114
e-ISSN
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Volume of the periodical
30
Issue of the periodical within the volume
9
Country of publishing house
GB - UNITED KINGDOM
Number of pages
3
Pages from-to
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UT code for WoS article
000259098300010
EID of the result in the Scopus database
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