How to Cite this Article: Meyer S, Löffler G, Gencik M, Fries P, Papanagiotou P, Oehl-Jaschkowitz B, Gortner L. Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. 2013. Am J Med Genet Part A 161A: 626–629.
Article first published online: 7 FEB 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 3, pages 626–629, March 2013
How to Cite
Meyer, S., Löffler, G., Gencik, M., Fries, P., Papanagiotou, P., Oehl-Jaschkowitz, B. and Gortner, L. (2013), Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. Am. J. Med. Genet., 161: 626–629. doi: 10.1002/ajmg.a.35758
Authors' contributions: Sascha Meyer, Günther Löffler, Ludwig Gortner were involved in patient care, contributed to making the diagnosis and were responsible for writing the manuscript. Peter Fries and Panagiotis Papanagiotou were responsible for data collection and performing all imaging studies. Barbara Oehl-Jaschkowitz and Martin Gencik were responsible for genetic analysis.
The authors have declared no conflict of interest.
- Issue published online: 21 FEB 2013
- Article first published online: 7 FEB 2013
- Manuscript Accepted: 13 OCT 2012
- Manuscript Received: 3 OCT 2012