Cerebellar hypoplasia in two patients with Cohen syndrome: a new association

被引：0
|
作者：
Chandler, Kate [1 ,2 ,3 ,4 ]
Waite, A. [5 ]
O'Driscoll, M. [1 ,2 ,3 ,4 ]
Manson, F. D. C. [5 ]
机构：
[1] Univ Manchester, Reg Genet Serv, Manchester M13 9PL, Lancs, England
[2] Univ Manchester, Med Genet Res Grp, Manchester M13 9PL, Lancs, England
[3] Cent Manchester & Manchester Childrens Univ Hosp, Reg Genet Serv, Manchester, Lancs, England
[4] Cent Manchester & Manchester Childrens Univ Hosp, Med Genet Res Grp, Manchester, Lancs, England
[5] Univ Manchester, Ctr Mol Med, Manchester M13 9PL, Lancs, England
来源：
JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：S42 / S42
页数：1
相关论文
共 50 条
  • [31] Transient Postural Vestibulo-Cerebellar Syndrome in Three Dogs With Presumed Cerebellar Hypoplasia
    Prikryl, Miroslav
    Caine, Abby
    Palus, Viktor
    FRONTIERS IN VETERINARY SCIENCE, 2020, 7
  • [32] Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome
    Devriendt, K
    VanThienen, MN
    Swillen, A
    Fryns, JP
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1996, 38 (10): : 949 - 953
  • [33] Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients
    Young Bae Sohn
    Jung Min Ko
    Choong Ho Shin
    Sei Won Yang
    Jong-Hee Chae
    Kyung-A Lee
    Journal of Human Genetics, 2016, 61 : 235 - 239
  • [34] Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients
    Sohn, Young Bae
    Ko, Jung Min
    Shin, Choong Ho
    Yang, Sei Won
    Chae, Jong-Hee
    Lee, Kyung-A
    JOURNAL OF HUMAN GENETICS, 2016, 61 (03) : 235 - 239
  • [35] A SYNDROME OF PROGRESSIVE PANCYTOPENIA WITH MICROCEPHALY, CEREBELLAR HYPOPLASIA AND GROWTH FAILURE
    HREIDARSSON, S
    KRISTJANSSON, K
    JOHANNESSON, G
    JOHANNSSON, JH
    ACTA PAEDIATRICA SCANDINAVICA, 1988, 77 (05): : 773 - 775
  • [36] CEREBELLAR HYPOPLASIA IN CHILDREN WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
    JENSEN, PR
    HANSEN, FJ
    SKOVBY, F
    NEURORADIOLOGY, 1995, 37 (04) : 328 - 330
  • [37] Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome
    Baskin, E
    Kayiran, SM
    Oto, S
    Alehan, F
    Agildere, AM
    Saatçi, Ü
    JOURNAL OF CHILD NEUROLOGY, 2002, 17 (05) : 385 - 387
  • [38] Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome
    Titomanlio, Luigi
    De Brasi, Daniele
    Romano, Alfonso
    Genesio, Rita
    Diano, Alvaro A.
    Del Giudice, Ennio
    ACTA PAEDIATRICA, 2006, 95 (07) : 861 - 863
  • [39] Dysequilibrium syndrome in Hutterites: Autosomal-recessive cerebellar hypoplasia
    Glass, HC
    Boycott, KM
    Adams, C
    Barlow, K
    Scott, J
    Morgan, K
    Fujiwara, M
    Wirrell, E
    McLeod, DR
    ANNALS OF NEUROLOGY, 2004, 56 : S100 - S100
  • [40] A case of Brachman de Lange syndrome with cerebellar vermis hypoplasia
    Ozkinay, F
    Cogulu, O
    Gunduz, C
    Levent, E
    Ozkinay, C
    CLINICAL DYSMORPHOLOGY, 1998, 7 (04) : 303 - 305
12345