| OŠLEJŠKOVÁ, Hana, Věra HOŘÍNOVÁ, Jaroslav ŠTĚRBA, Zdeněk PAVELKA, D. BABOVIC - VUKSANOVIC, Lenka DUBSKÁ a Dalibor VALÍK. Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. Journal Pediatric Hematology Oncology. GB, London: Taylor and Francis, 2008, roč. 30, č. 9, s. 689-691, 2 s. ISSN 1077-4114. |
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@article{820740,
author = {Ošlejšková, Hana and Hořínová, Věra and Štěrba, Jaroslav and Pavelka, Zdeněk and Babovic and Vuksanovic, D. and Dubská, Lenka and Valík, Dalibor},
article_location = {GB, London},
article_number = {9},
keywords = {Hedcehog Biosynhtesis Tumours MRI},
language = {eng},
issn = {1077-4114},
journal = {Journal Pediatric Hematology Oncology},
title = {Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.},
volume = {30},
year = {2008}
}
TY - JOUR
ID - 820740
AU - Ošlejšková, Hana - Hořínová, Věra - Štěrba, Jaroslav - Pavelka, Zdeněk - Babovic - Vuksanovic, D. - Dubská, Lenka - Valík, Dalibor
PY - 2008
TI - Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.
JF - Journal Pediatric Hematology Oncology
VL - 30
IS - 9
SP - 689-691
EP - 689-691
PB - Taylor and Francis
SN - 10774114
KW - Hedcehog Biosynhtesis Tumours MRI
N2 - 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 of association of this syndrome with malignant intracranial germ-cell tumor.
ER -
OŠLEJŠKOVÁ, Hana, Věra HOŘÍNOVÁ, Jaroslav ŠTĚRBA, Zdeněk PAVELKA, D. BABOVIC - VUKSANOVIC, Lenka DUBSKÁ a Dalibor VALÍK. Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. \textit{Journal Pediatric Hematology Oncology}. GB, London: Taylor and Francis, 2008, roč.~30, č.~9, s.~689-691, 2 s. ISSN~1077-4114.
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