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Pediatr Neonatol. 2019 Feb;60(1):102-104. doi: 10.1016/j.pedneo.2018.04.002. Epub 2018 Apr 13.

Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs.

Author information

1
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, Taipei Medical University Hospital, Taipei, Taiwan.
2
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
3
Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
4
Institute of BioMedical Informatics, National Yang-Ming University, Taipei, Taiwan.
5
Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan.
6
Research Center for Tumor Medical Science, China Medical University, Taichung, 40402, Taiwan; Graduate Institute of Cancer Biology, China Medical University, Taichung, 40402, Taiwan.
7
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: ncleentu@ntu.edu.tw.
PMID:
29776788
DOI:
10.1016/j.pedneo.2018.04.002
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