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NOP03 Germinoma of pineal and sellar region in a patient with Smith-Lemli-Opitz syndrome: a case report

✍ Scribed by M. Muchova; H. Oslejskova; J. Sterba; V. Horinova; D. Valik; Z. Pavelka; O. Magnova

Book ID: 114359756
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 43 KB
Volume: 11
Category: Article
ISSN: 1090-3798
DOI: 10.1016/s1090-3798(08)70702-5

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## Abstract Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7‐dehydrocholesterol Δ7‐reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholest

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