EARLY ONSET COCKAYNES SYNDROME - CASE-REPORTS WITH NEUROPATHOLOGICAL AND FIBROBLAST STUDIES

被引:41
作者
PATTON, MA
GIANNELLI, F
FRANCIS, AJ
BARAITSER, M
HARDING, B
WILLIAMS, AJ
机构
[1] GUYS HOSP,PAEDIAT RES UNIT,LONDON SE1,ENGLAND
[2] ST GEORGES HOSP,SCH MED,LONDON SW17,ENGLAND
[3] HOSP SICK CHILDREN,LONDON WC1N 3JH,ENGLAND
关键词
D O I
10.1136/jmg.26.3.154
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:154 / 159
页数:6
相关论文
共 14 条
[1]  
Cockayne E A, 1936, Arch Dis Child, V11, P1
[2]   NECROPSY OF ORIGINAL CASE OF LOWRYS SYNDROME [J].
DOLMAN, CL ;
WRIGHT, VJ .
JOURNAL OF MEDICAL GENETICS, 1978, 15 (03) :227-229
[3]   IDENTICAL MALE TWINS AND BROTHER WITH COCKAYNE SYNDROME [J].
HOUSTON, CS ;
ZALESKI, WA ;
ROZDILSKY, B .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 13 (02) :211-223
[4]  
LEHMANN AR, 1979, CANCER RES, V39, P4237
[5]   3 COMPLEMENTATION GROUPS IN COCKAYNE SYNDROME [J].
LEHMANN, AR .
MUTATION RESEARCH, 1982, 106 (02) :347-356
[6]  
LEHMANN AR, 1985, LANCET, V1, P486
[7]   CATARACTS, MICROCEPHALY, KYPHOSIS, AND LIMITED JOINT MOVEMENT IN 2 SIBLINGS - NEW SYNDROME [J].
LOWRY, RB ;
MACLEAN, R ;
MCLEAN, DM ;
TISCHLER, B .
JOURNAL OF PEDIATRICS, 1971, 79 (02) :282-+
[8]  
MAYNE LV, 1982, CANCER RES, V42, P1473
[9]   NEUROPATHOLOGY OF COCKAYNES SYNDROME [J].
MOOSSY, J .
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1967, 26 (04) :654-&
[10]   COCKAYNE SYNDROME WITH EARLY ONSET OF MANIFESTATIONS [J].
MOYER, DB ;
MARQUIS, P ;
SHERTZER, ME ;
BURTON, BK .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 13 (02) :225-230