Fragile X syndrome: diagnosis, treatment and research
Fragile X syndrome: diagnosis, treatment and research
复制标题
脆性 X 综合征：诊断、治疗和研究
DOI：
10.1007/s00439-002-0888-y
复制
发表时间：
2003
期刊：
影响因子：
5.3
通讯作者：
B. Vries
中科院分区：
文献类型：
--
作者：
B. Vries
This book has greatly benefited from the married relationship of the molecular (Paul J. Hagerman) and clinical (Randi Jenssen Hagerman) editors and their enthusiasm to bring excellent authors together in the third edition of this book on the Fragile X syndrome.The fragile X syndrome is one of the major mental retardation syndromes, and the level of understanding and research are currently in the third phase. From 1943 to 1969, the diagnosis was based on the phenotype only. The second phase, the cytogenetic period, started with the cytogenetic detection of the fragile site at Xq27 and resulted in the identification of the FMR1 gene in 1991. In the present third phase, clinical and molecular studies attempt a fuller understanding of the basic mechanisms. It is therefore a reasonable decision of the editors to delete the chapter on cytogenetics in this new edition in exchange for more up to date and relevant chapters on neurobiology and gene expression.
