Lymphoedema-distichiasis syndrome.
作者信息
Marques Nadine Sousa, Miranda Ana, Barros Sandra, Parreira Sónia
机构信息
Department of Ophthalmology, Garcia de Orta Hospital, Lisbon, Portugal.
Department of Ophthalmology, Garcia de Orta Hospital, Lisbon, Portugal Department of Ophthalmology, Garcia de Orta Hospital, Almada, Portugal.
出版信息
BMJ Case Rep. 2016 Jan 11;2016:bcr2015213651. doi: 10.1136/bcr-2015-213651.
Abstract
摘要
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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.对74例存在FOXC2突变或与16q24连锁的淋巴水肿-双行睫综合征患者的表型异常分析。
J Med Genet. 2002 Jul;39(7):478-83. doi: 10.1136/jmg.39.7.478.
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Hereditary lymphedema and distichiasis.遗传性淋巴水肿和双行睫。
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