Dysequilibrium syndrome in Hutterites: Autosomal-recessive cerebellar hypoplasia

被引:0
|
作者
Glass, HC
Boycott, KM
Adams, C
Barlow, K
Scott, J
Morgan, K
Fujiwara, M
Wirrell, E
McLeod, DR
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:S100 / S100
页数:1
相关论文
共 50 条
  • [32] AUTOSOMAL RECESSIVE SYNDROME OF CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
    NEUHAUSER, G
    OPITZ, JM
    CLINICAL GENETICS, 1975, 7 (05) : 426 - 434
  • [33] AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES
    SHOKEIR, MHK
    KOBRINSKY, NL
    CLINICAL GENETICS, 1976, 9 (02) : 197 - 202
  • [34] SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
    Swan, Lauren
    Cardinal, John
    Coman, David
    CLINICS AND PRACTICE, 2018, 8 (03) : 91 - 93
  • [35] Autosomal-recessive polycystic Renal Disease (ARPRD)
    Diemert, Anke
    Klaassen, Ilka
    Kemper, Markus J.
    Hecher, Kurt
    Singer, Dominique
    ZEITSCHRIFT FUR GEBURTSHILFE UND NEONATOLOGIE, 2013, 217 (02): : 46 - 49
  • [36] Non-syndromic, autosomal-recessive deafness
    Petersen, MB
    Willems, PJ
    CLINICAL GENETICS, 2006, 69 (05) : 371 - 392
  • [37] Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs:: A distinct autosomal-recessive disorder
    Sarralde, A
    Reynoso, MC
    Nazará, Z
    Soto, F
    Hernández, A
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 75 (05): : 453 - 460
  • [38] CLINICAL CONSEQUENCES OF HETEROZYGOSITY FOR AUTOSOMAL-RECESSIVE DISEASES
    VOGEL, F
    CLINICAL GENETICS, 1984, 25 (05) : 381 - 415
  • [39] Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
    Petrof, Gabriela
    Nanda, Arti
    Howden, Jake
    Takeichi, Takuya
    McMillan, James R.
    Aristodemou, Sophia
    Ozoemena, Linda
    Liu, Lu
    South, Andrew P.
    Pourreyron, Celine
    Dafou, Dimitra
    Proudfoot, Laura E.
    Al-Ajmi, Hejab
    Akiyama, Masashi
    McLean, W. H. Irwin
    Simpson, Michael A.
    Parsons, Maddy
    McGrath, John A.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (03) : 308 - 314
  • [40] Total anonychia congenita and microcephaly with normal intelligence: A new autosomal-recessive syndrome?
    Teebi, AS
    Kaurah, P
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 66 (03): : 257 - 260