Autosomal dominant Robinow syndrome in 11 affected family members: Marked phenotypic variability.

被引:0
|
作者
Kostiner, D
Cox, V
Golabi, M
Hoyme, HE
机构
[1] Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA
[2] Stanford Univ, Dept Pediat, Div Genet, Stanford, CA 94305 USA
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
690
引用
收藏
页码:301 / 301
页数:1
相关论文
共 50 条
  • [31] AUTOSOMAL DOMINANT CONGENITAL HORNERS SYNDROME IN A DUTCH FAMILY
    HAGEMAN, G
    IPPEL, PF
    TENIJENHUIS, FCAM
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1992, 55 (01): : 28 - 30
  • [32] MCARDLES SYNDROME - REPORT OF A FAMILY WITH AUTOSOMAL DOMINANT INHERITANCE
    CHUI, LA
    MUNSAT, TL
    HIGGINS, J
    NEUROLOGY, 1975, 25 (04) : 388 - 388
  • [33] Autosomal dominant muscle cramp syndrome in a Japanese family
    Chiba, S
    Saitoh, M
    Hatanaka, Y
    Kashiwagi, M
    Imai, T
    Matsumoto, H
    Minami, R
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 67 (01): : 116 - 119
  • [34] Autosomal Dominant Cerebral Arteriopathy: Neuropsychiatric syndrome in a family
    Adair, JC
    Hart, BL
    Kornfeld, M
    Graham, GD
    Swanda, RM
    Ptacek, LJ
    Davis, LE
    NEUROPSYCHIATRY NEUROPSYCHOLOGY AND BEHAVIORAL NEUROLOGY, 1998, 11 (01): : 31 - 39
  • [35] Prospective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?
    Gui, Baoheng
    Slone, Jesse
    Huang, Taosheng
    FRONTIERS IN GENETICS, 2017, 8
  • [36] Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
    Soucy, Megan
    Kolesnikova, Masha
    Kim, Angela H.
    Tsang, Stephen H.
    DOCUMENTA OPHTHALMOLOGICA, 2023, 146 (03) : 267 - 272
  • [37] Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
    Megan Soucy
    Masha Kolesnikova
    Angela H. Kim
    Stephen H. Tsang
    Documenta Ophthalmologica, 2023, 146 : 267 - 272
  • [38] Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity
    Isidor, B.
    Cormier-Daire, V.
    Le Merrer, M.
    Lefrancois, T.
    Hamel, A.
    Le Caignec, C.
    David, A.
    Jacquemont, S.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (12) : 1593 - 1597
  • [39] Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome
    Kunz, J
    Hudler, M
    Fritz, B
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (08) : 650 - 652
  • [40] CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY - A POSITRON EMISSION TOMOGRAPHY STUDY IN 2 AFFECTED FAMILY MEMBERS
    CHABRIAT, H
    BOUSSER, MG
    STROKE, 1995, 26 (09) : 1729 - 1730