TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations

Affiliations

• 1 Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
• 2 Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
• 3 CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
• 4 Center for Molecular Biology and Cytogenetics, SRL, Inc., Tokyo, Japan.
• 5 Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
• 6 Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.
• 7 Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan.
• 8 Division of Pediatric Neurology, Osaka Medical Center and Research for Maternal and Child Health, Osaka, Japan.
• 9 Department of Community and General Medicine, Sapporo Medical University, Sapporo, Japan.
• 10 Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan.
• 11 Department of Pediatrics and Clinical Genetics, Friedrich-Schiller University of Jena, Jena, Germany.