The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)
The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)
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DOI：
10.1038/sj.ejhg.5201639
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发表时间：
2006-12-01
影响因子：
5.2
通讯作者：
Partington, Michael
中科院分区：
文献类型：
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作者：
Gecz, Jozef;Turner, Gillian;Partington, Michael
Borjeson-Forssman-Lehman综合征于1962年首次被描述。自那以后，许多类似的家庭和孤立病例都被报道过。在包括原始家系在内的19个病例中，临床诊断是通过鉴定负责基因PHF6的突变而得到确认的。总结最近对X染色体连锁精神发育迟滞综合征的临床和分子研究，我们的目的是为在受影响的男性和女性受试者中鉴定它提供有用的资源。
Borjeson-Forssman-Lehman syndrome was first described in 1962. Many similar families and isolated cases have been reported since. In nineteen of them, including the original family, the clinical diagnosis was confirmed by the identification of a mutation in the responsible gene, PHF6. Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects.