International Nosology and Classification of Constitutional Disorders of Bone (2001)

International Nosology and Classification of Constitutional Disorders of Bone (2001)
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DOI:
10.1002/ajmg.10828
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发表时间:
2002-11-15
期刊:
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子:
--
通讯作者:
Hall, CM
Hall, CM
中科院分区:
其他
文献类型:
--
作者:
Hall, CM

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最后一个国际骨骼系统疾病分类于1998年出版。从那时起,在确定负责定义条件的分子变化方面取得了快速进展,并且不断描绘新的疾病。出于这些原因,应进一步更新分类。它不仅扩展到骨软骨发育不良(33组),而且还扩展到遗传决定的骨发育不良(3组)。(C)2002 Wiley-Liss,Inc.
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.