NON-PROGRESSIVE CEREBELLAR-ATAXIA, APLASIA OF PUPILLARY ZONE OF IRIS, AND MENTAL-SUBNORMALITY (GILLESPIES SYNDROME) AFFECTING 3 MEMBERS OF A NON-CONSANGUINEOUS FAMILY IN 2 GENERATIONS

被引：21
作者：
CRAWFURD, MDA
HARCOURT, RB
SHAW, PA
机构：
[1] GEN INFIRM,DEPT OPHTHALMOL,LEEDS LS1 3EX,W YORKSHIRE,ENGLAND
[2] UNIV LEEDS,DEPT GENET,LEEDS LS2 9JT,W YORKSHIRE,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1979年 / 16卷 / 05期
关键词：
D O I：
10.1136/jmg.16.5.373
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：373 / 378
页数：6
相关论文
共 13 条
  • [1] ANDERSEN B, 1965, DEV MED CHILD NEUROL, V7, P249
  • [2] Behr C., 1909, KLIN MBL AUGENHEILKD, V47, P138
  • [3] FRANCESCHETTI A, 1940, SCHWEIZERISCHE MEDIZ, V21, P285
  • [4] FRANCESCHETTI A, 1945, ARCH KLAUSSTIFT VE S, V20, P59
  • [5] GILLESPIE FD, 1965, ARCH OPHTHALMOL-CHIC, V73, P338
  • [6] INDEMINI M, 1961, J GENET HUM, V10, P297
  • [7] Marinesco G, 1931, ENCEPHALE, V26, P97
  • [8] ASSOCIATION OF WILMSS TUMOR WITH ANIRIDIA HEMIHYPERTROPHY + OTHER CONGENITAL MALFORMATIONS
    MILLER, RW
    MANNING, MD
    FRAUMENI, JF
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1964, 270 (18) : 922 - &
  • [9] NOSOLOGY OF CONGENITAL NON-PROGRESSIVE CEREBELLAR ATAXIA - REPORT ON 6 CASES IN 3 FAMILIES
    PFEIFFER, RA
    PALM, D
    JUNEMANN, G
    MANDLKRA.S
    HEIMANN, E
    [J]. NEUROPADIATRIE, 1974, 5 (01): : 91 - 102
  • [10] Refsum S., 1946, ACTA PSYCHIAT SCAND, V38, P1
12