Raoul C.M. Hennekam, M.D., Ph.D. is Professor of Pediatrics and Translational Genetics in Amsterdam and Professor of Clinical Genetics at the Institute of Neurology at University College London. He has been involved in SLOS ever since the late 1980s when he found variably elevated levels of lysosomal enzymes in several patients, to which Dr. John Opitz reacted to him in a letter that “this must be caused by a membrane abnormality and tell us something about the cause.”
Mutational spectrum of Smith–Lemli–Opitz syndrome†
Article first published online: 5 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis
Volume 160C, Issue 4, pages 263–284, 15 November 2012
How to Cite
Waterham, H. R. and Hennekam, R. C.M. (2012), Mutational spectrum of Smith–Lemli–Opitz syndrome. Am. J. Med. Genet., 160C: 263–284. doi: 10.1002/ajmg.c.31346
How to cite this article: Waterham HR, Hennekam RCM. 2012. Mutational spectrum of Smith–Lemli–Opitz syndrome. Am J Med Genet Part C Semin Med Genet 160C: 263–284.
- Issue published online: 22 OCT 2012
- Article first published online: 5 OCT 2012
Options for accessing this content:
- If you have access to this content through a society membership, please first log in to your society website.
- If you would like institutional access to this content, please recommend the title to your librarian.
- Login via other institutional login options http://onlinelibrary.wiley.com/login-options.
- You can purchase online access to this Article for a 24-hour period (price varies by title)
- If you already have a Wiley Online Library or Wiley InterScience user account: login above and proceed to purchase the article.
- New Users: Please register, then proceed to purchase the article.
Type your institution's name in the box below. If your institution is a Wiley customer, it will appear in the list of suggested institutions and you will be able to log in to access content. Some users may also log in directly via OpenAthens.
Please note that there are currently a number of duplicate entries in the list of institutions. We are actively working on fixing this issue and apologize for any inconvenience caused.
Registered Users please login:
- Access your saved publications, articles and searches
- Manage your email alerts, orders and subscriptions
- Change your contact information, including your password
Please register to:
- Save publications, articles and searches
- Get email alerts
- Get all the benefits mentioned below!