期刊
CLINICAL REVIEWS IN BONE AND MINERAL METABOLISM
卷 3, 期 3-4, 页码 201-204出版社
SPRINGER
DOI: 10.1385/BMM:3:3-4:201
关键词
Fibrodysplasia ossificans progressiva (FOP); genetics; inheritance; mutation; heterotopicossification; autosomal-dominant
资金
- International Fibrodysplasia Ossificans Progressiva Association
- Weldon Endowment
- Cali Center
- Isaac and Rose Nassau Professorship in Orthopaedic Molecular Medicine
- National Institutes of Health (NIH) [R01-AR41916]
Fibrodysplasia ossificans progressiva (FOP) is a rare, heritable disorder with infrequent genetic transmission of the condition owing to low reproductive fitness. The recent identification of several small, additional families with inheritance of classic features of FOP has provided the opportunity to expand positional cloning efforts to identify the mutated gene in FOP through whole-genome linkage analyses. Candidate gene studies using both genetic (linkage) and molecular (gene expression) approaches also are contributing to information about the genetic and cellular causes of FOP.
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