CONGENITAL CEREBELLAR-ATAXIA, SECTORAL TAPETORETINAL DEGENERATION AND MENTAL-RETARDATION OBSERVED IN 2 SIBLINGS

被引:0
|
作者
COTRUFO, R
FEDERICO, A
MELONE, MAB
BERNINI, FP
SMALTINO, F
机构
[1] UNIV NAPLES,FAC MED,CATTEDRA NEURORADIOL I,NEUROL CLIN,I-80134 NAPLES,ITALY
[2] UNIV NAPLES,FAC MED,IST NEURORADIOL II,I-80134 NAPLES,ITALY
关键词
D O I
暂无
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
引用
收藏
页码:70 / 70
页数:1
相关论文
共 45 条
  • [1] SYNDROME OF PARTIAL ANIRIDIA, CEREBELLAR-ATAXIA, AND MENTAL-RETARDATION - GILLESPIE SYNDROME
    NEVIN, NC
    LIM, JHK
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (04): : 468 - 469
  • [2] ABSENCE OF THE CEREBELLAR GRANULAR LAYER, MENTAL-RETARDATION TAPETORETINAL DEGENERATION AND PROGRESSIVE GLOMERULOPATHY - AN AUTOSOMAL RECESSIVE OCULO-RENAL-CEREBELLAR SYNDROME
    HUNTER, AGW
    JURENKA, S
    THOMPSON, D
    EVANS, JA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 11 (04): : 383 - 395
  • [3] TAPETORETINAL DEGENERATION AND MENTAL-RETARDATION ASSOCIATED WITH MICROSPHEROPHAKIA AND MESODERMAL ABNORMALITIES - A NEW SYNDROME
    SIERPINSKIBART, J
    NEUMANN, E
    TIROSH, E
    ATIAS, D
    METABOLIC AND PEDIATRIC OPHTHALMOLOGY, 1981, 5 (3-4) : 225 - 231
  • [4] SYNDROME OF CONGENITAL CEREBELLAR ATAXIA, ANIRIDIA AND MENTAL RETARDATION
    SARSFIELD, JK
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1971, 13 (04): : 508 - +
  • [5] ABSENCE OF PAX6 GENE-MUTATIONS IN GILLESPIE SYNDROME (PARTIAL ANIRIDIA, CEREBELLAR-ATAXIA, AND MENTAL-RETARDATION)
    GLASER, T
    TON, CCT
    MUELLER, R
    PETZLERLER, ML
    OLIVER, C
    NEVIN, NC
    HOUSMAN, DE
    MAAS, RL
    GENOMICS, 1994, 19 (01) : 145 - 148
  • [6] 2 SIBLINGS WITH MENTAL-RETARDATION AND PROGRESSIVE SPASTICITY
    NICOLAIDES, P
    BARAITSER, M
    BRETT, EM
    CLINICAL GENETICS, 1993, 43 (06) : 312 - 314
  • [7] SPONASTRIME DYSPLASIA - REPORT ON 2 SIBLINGS WITH MENTAL-RETARDATION
    CAMERA, G
    CAMERA, A
    DIROCCO, M
    GATTI, R
    PEDIATRIC RADIOLOGY, 1993, 23 (08) : 611 - 614
  • [8] TRICHOTHIODYSTROPHY, MENTAL-RETARDATION, SHORT STATURE, ATAXIA, AND GONADAL DYSFUNCTION IN 3 MOROCCAN SIBLINGS
    PRZEDBORSKI, S
    FERSTER, A
    GOLDMAN, S
    WOLTER, R
    SONG, M
    TONNESEN, T
    POLLITT, RJ
    VAMOS, E
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (04): : 566 - 573
  • [9] YELLOW NAIL SYNDROME ASSOCIATED WITH MENTAL-RETARDATION IN 2 SIBLINGS
    KAMATANI, M
    RAI, A
    HEN, H
    HAYASHI, K
    AOKI, T
    UMEYAMA, K
    TAKEBAYASHI, J
    BRITISH JOURNAL OF DERMATOLOGY, 1978, 99 (03) : 329 - 333
  • [10] HEREDITARY SPASTIC DIPLEGIA WITH MENTAL-RETARDATION IN 2 YOUNG SIBLINGS
    GUSTAVSON, KH
    MODRZEWSKA, K
    ERIKSON, A
    CLINICAL GENETICS, 1989, 36 (06) : 439 - 441