Presentation Information
[P2-04-14]A case of craniofacial microsomia with a de novo PUF60 variant
○Takuya Ogawa1, Jingyi Xue2,3, Long Guo2,4, Maristela Sayuri Inoue-Arai1, Siulan Vendramini-Pittoli5, Roseli Maria Zechi-Ceide5, Rosana Maria Candido-Souza5, Cristiano Tonello6, Michele Madeira Brandão6, Terumi Okada Ozawa7, Adriano Porto Peixoto7, Daniela Maria Cury Ferreira Ruiz8, Nakashima Tomoki9, Shiro Ikegawa2, Keiji Moriyama1, Nancy Mizue Kokitsu-Nakata5 (1.Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, 2.Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, 3.Department of Pharmacology, School of Basic Medical Sciences, Beijing Key Laboratory of Metabolic Disturbance Related Cardiovascular Disease, Capital Medical University, Beijing, China, 4.Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, China, 5.Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 6.Department of Craniofacial Surgery, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 7.Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 8.Department Speech Therapy, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil, 9.Department of Cell Signaling, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan)