Article info
PDFChromosomal rearrangements
Short report
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
- Correspondence to Dr Kyung-A Lee, Department of Laboratory Medicine, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 135-720, Korea; kal1119{at}yuhs.ac
Citation
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
Publication history
- Received January 13, 2015
- Revised May 3, 2015
- Accepted May 11, 2015
- First published June 4, 2015.
Online issue publication
April 27, 2016
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- Data supplement 1 - Online figures
- Data supplement 2 - Online tables
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