萨维纳斯综合征。
The Sabinas syndrome.
作者信息
Howell R R, Arbisser A I, Parsons D S, Scott C I, Fraustadt U, Collie W R, Marshall R N, Ibarra O C
出版信息
Am J Hum Genet. 1981 Nov;33(6):957-67.
Abstract
We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.
摘要
我们在来自墨西哥北部一个小社区的患者中发现了一种新的常染色体隐性疾病。这种疾病在出生时即可诊断，其主要症状包括头发易断、智力迟钝和指甲发育异常。光学显微镜和电子显微镜下均可观察到头发的结构异常。头发中的胱氨酸含量降低，而头发中的铜/锌比例增加。
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