Taxonomy of rare genetic metabolic bone disorders
نویسندگان
چکیده
منابع مشابه
Genetic Factors in Bone Disorders
Genetic factors and their resulting phenotypes were evaluated in three different bone disorders: osteogenesis imperfecta (OI), juvenile idiopathic osteoporosis (JIO), and stress fractures. The spectrum of the OI phenotypes caused by mutations in the COL1A1 and COL1A2 genes is well defined, but the mechanisms by which the variations affect the hearing phenotype are not wellknown. A total of 54 F...
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ژورنال
عنوان ژورنال: Osteoporosis International
سال: 2015
ISSN: 0937-941X,1433-2965
DOI: 10.1007/s00198-015-3188-9