首页 | 本学科首页   官方微博 | 高级检索  
     


BRF1 mutations in a family with growth failure,markedly delayed bone age,and central nervous system anomalies
Authors:Y.H. Jee  N. Sowada  T.C. Markello  I. Rezvani  G. Borck  J. Baron
Affiliation:1. Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA;2. Institute of Human Genetics, University of Ulm, Ulm, Germany;3. Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA;4. Section of Pediatric Endocrinology and Diabetes, Department of Pediatrics, St. Christopher's Hospital of Children, Philadelphia, PA, USA
Abstract:
Keywords:BRF1  delayed bone age  exome sequencing  neurologic syndrome  severe short stature
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号