Increased bone turnover,osteoporosis, progressive tibial bowing,fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Increased bone turnover,osteoporosis, progressive tibial bowing,fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation

Authors:	Philip M. Boone Yiu Man Chan Jill V. Hunter Louis E. Pottkotter Nelson A. Davino Yaping Yang Joke Beuten Carlos A. Bacino

Affiliation:	1. Department of Molecular and Human Genetics, Baylor College of Medicine;2. Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China;3. Texas Children's Hospital, Houston, Texas;4. Department of Orthopedic Surgery, UT Health Science Center at Houston, Houston, Texas;5. Medical Genetics Laboratories, Baylor College of Medicine, Houston, Texas;6. Correspondence to:;7. Dr. Carlos A. Bacino, M.D., Texas Children's Hospital, Clinical Care Center, Room 1560, MS: 225, 6701 Fannin St Houston, TX 77030.;8. E‐mail:

Abstract:

Keywords:	SATB2 bone remodeling osteoclastic activity tibial bowing Glass syndrome