COCKAYNE-SYNDROME IN 2 ADULT SIBLINGS

被引：22

作者：

MIYAUCHI, H ^{[1
]}

HORIO, T ^{[1
]}

AKAEDA, T ^{[1
]}

ASADA, Y ^{[1
]}

CHANG, HR ^{[1
]}

ISHIZAKI, K ^{[1
]}

IKENAGA, M ^{[1
]}

机构：

[1] KYOTO UNIV, CTR RADIAT BIOL, KYOTO 606, JAPAN

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 1994年 / 30卷 / 02期

关键词：

D O I：

10.1016/S0190-9622(94)70034-6

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Although survival beyond the second decade is unusual in patients who have Cockayne syndrome, we describe two brothers with the syndrome who are 42 and 55 years of age. Their cultured skin fibroblasts showed extreme W sensitivity but had almost normal UV-induced unscheduled DNA synthesis. The patients were classified as genetic complementation group B after study of the recovery of RNA synthesis after UV irradiation of fused cells. Clinical phototesting revealed a reduced threshold for UVB erythema.

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页码：329 / 335

页数：7

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