Research Award Details

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Identifying Genes that Cause Congenital Vertabral Malformations

Grant Recipient: Yukio Nakamura, MD

Co-Investigators: John B Emans, MD and Matthew L. Warman, MD
Institution:
Children's Hospital of Boston
Presentations & Publications:
Presentation: Toward understanding the disease-causing genes in congenital vertebral anomalies. The 4th Koushin Pediatric Orthopaedic Research Society. Yamanashi University. February 27.2014. Publication: “Identification of a Novel PCSK5 Frameshift Mutation in a Patient with the VACTERL Association” has been under review in Clinical Genetics.
Further Funding:
The Takeda Science Foundation; The Japan Orthopaedics and Traumatology Foundation, Inc. (No. 227); The Kanae Foundation for the Promotion of Medical Science; The Naito Foundation
Additional Information: