期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 113, 期 1, 页码 65-77出版社
WILEY-LISS
DOI: 10.1002/ajmg.10828
关键词
osteochondrodysplasia; dysostosis; gene
The last International Classification of Constitutional Disorders of Bone was published in 1998. Since then rapid advances have been made in identifying the molecular changes responsible for defined conditions and new disorders are constantly being delineated. For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33 groups) but also genetically determined dysostoses (3 groups). (C) 2002 Wiley-Liss, Inc.
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