Dellinger M T, Thome K, Bernas M J, Erickson R P, Witte M H
Department of Surgery, University of Texas Southwestern, Dallas, USA.
Lymphology. 2008 Sep;41(3):98-102.
Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.
淋巴水肿-双行睫综合征（OMIM 153400）是一种常染色体显性遗传性疾病，通常在青春期出现淋巴水肿，出生时即有双行睫。该病症已明确与叉头转录因子FOXC2的突变有关，这些突变主要是导致蛋白质截短的移码突变。我们在此报告一种新的错义突变，并对已报道的突变进行文献综述。
