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
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