Developmental Malformations
Cerebro-oculo-facio-skeletal syndrome
Jun. 01, 2020
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Filipin staining in skin fibroblast cultures challenged with low density lipoprotein. Intense fluorescence of perinuclear vesicles in "classical" Niemann-Pick C (NPC) cells (A), milder staining in "variant" NPC cells (B), compared to normal cells (C), and "typical" NPC heterozygote cells (D). (Vanier MT, Suzuki K. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol 1998;8(1):163-74.)