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

Affiliations

• 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.