These authors contributed equally to this work.
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients
Article first published online: 1 MAY 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 2, pages 135–144, February 2013
How to Cite
Tsurusaki, Y., Kosho, T., Hatasaki, K., Narumi, Y., Wakui, K., Fukushima, Y., Doi, H., Saitsu, H., Miyake, N. and Matsumoto, N. (2013), Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Clinical Genetics, 83: 135–144. doi: 10.1111/j.1399-0004.2012.01885.x
- Issue published online: 7 JAN 2013
- Article first published online: 1 MAY 2012
- Accepted manuscript online: 30 MAR 2012 11:44AM EST
- Received 14 January 2012, revised and accepted for publication 26 March 2012
Options for accessing this content:
- If you are a society or association member and require assistance with obtaining online access instructions please contact our Journal Customer Services team.
- If your institution does not currently subscribe 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.
Login via OpenAthens
Search for your institution's name below to login via Shibboleth.
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!
Patients and/or caregivers may access this content for use in relation to their own personal healthcare or that of a family member only. Terms and conditions will apply.