Gécz Jozef, Turner Gillian, Nelson John, Partington Michael
Neurogenetics Laboratory, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
Eur J Hum Genet. 2006 Dec;14(12):1233-7. doi: 10.1038/sj.ejhg.5201639. Epub 2006 Aug 16.
Börjeson-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.
博尔热森-福斯曼-莱曼综合征于1962年首次被描述。自那时以来，已报道了许多类似的家族和散发病例。其中19个家族（包括最初的家族），通过鉴定致病基因PHF6中的突变，临床诊断得到了证实。总结该X染色体连锁智力障碍综合征的近期临床和分子研究，我们旨在为在受影响的男性和女性受试者中识别该综合征提供有用的资源。
