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胱氨酸尿症与智力缺陷。

Cystinuria and mental deficiency.

作者信息

Gold R J, Dobrinski M J, Gold D P

出版信息

Clin Genet. 1977 Dec;12(6):329-32. doi: 10.1111/j.1399-0004.1977.tb00951.x.

Abstract

Several studies have shown that the incidence of cystinuria in mentally retarded populations is higher than it is in the general population. The present study found that a group of cystinurics did not differ significantly in their intelligence from their normal siblings or intelligence test norms. Since cystinuria is a heterogeneous disease, the findings of the present study could be reconciled with previous findings by supposing that only certain genotypes for cystinuria lead to mental retardation.

摘要

多项研究表明,智障人群中胱氨酸尿症的发病率高于普通人群。本研究发现,一组胱氨酸尿症患者在智力方面与他们的正常兄弟姐妹或智力测试标准相比没有显著差异。由于胱氨酸尿症是一种异质性疾病,本研究的结果可以通过假设只有某些胱氨酸尿症的基因型会导致智力发育迟缓来与先前的研究结果相协调。

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