Cataract, hearing loss and hypercholesterolemia
Cataract, hearing loss and hypercholesterolemia
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白内障、听力损失和高胆固醇血症
DOI：
10.1111/j.1755-3768.1990.tb01705.x
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发表时间：
1990
影响因子：
3.4
通讯作者：
M. Mets
中科院分区：
文献类型：
--
作者：
P. Nucci;M. Mets
抽象的。一种新的综合征先天性白内障，听力损失，高胆固醇血症，下肢痉挛，也许智力低下，被描述。表现在两个兄弟没有其他受影响的家庭成员建议常染色体隐性遗传模式。讨论了眼-听综合征的鉴别诊断。
Abstract. A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo‐auditory syndromes is presented.