SPONDYLOEPIPHYSEAL DYSPLASIA - PHENOTYPIC, GENETIC, AND MOLECULAR HETEROGENEITY

被引：0
|
作者：
BEIGHTON, P [1 ]
RAMESAR, R [1 ]
SHER, C [1 ]
TSIPOURAS, P [1 ]
机构：
[1] UNIV CAPE TOWN,MRC,INHERITED SKELETAL DISORDERS RES UNIT,CAPE TOWN,SOUTH AFRICA
来源：
JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 10期
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：652 / 652
页数：1
相关论文
共 50 条
  • [41] Clinical and genetic heterogeneity in Desbuquois dysplasia
    Faivre, L
    Le Merrer, M
    Zerres, K
    Ben Hariz, M
    Scheffer, D
    Young, ID
    Maroteaux, P
    Munnich, A
    Cormier-Daire, V
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (01) : 29 - 32
  • [42] CRANIOFRONTONASAL DYSPLASIA - GENETIC-HETEROGENEITY
    KWEE, ML
    LINDHOUT, D
    CLINICAL GENETICS, 1984, 26 (01) : 80 - 80
  • [43] GENETIC-HETEROGENEITY IN SPONDYLOCOSTAL DYSPLASIA
    SHERROD, PS
    HARROD, MJE
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A83 - A83
  • [44] Genetic and phenotypic heterogeneity in pattern dystrophy
    Francis, PJ
    Schultz, DW
    Gregory, AM
    Schain, MB
    Barra, R
    Majewski, J
    Ott, J
    Acott, T
    Weleber, RG
    Klein, ML
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2005, 89 (09) : 1115 - 1119
  • [45] Genetic correlates of phenotypic heterogeneity in autism
    Varun Warrier
    Xinhe Zhang
    Patrick Reed
    Alexandra Havdahl
    Tyler M. Moore
    Freddy Cliquet
    Claire S. Leblond
    Thomas Rolland
    Anders Rosengren
    David H. Rowitch
    Matthew E. Hurles
    Daniel H. Geschwind
    Anders D. Børglum
    Elise B. Robinson
    Jakob Grove
    Hilary C. Martin
    Thomas Bourgeron
    Simon Baron-Cohen
    Nature Genetics, 2022, 54 : 1293 - 1304
  • [46] Genetic correlates of phenotypic heterogeneity in autism
    Warrier, Varun
    Zhang, Xinhe
    Reed, Patrick
    Havdahl, Alexandra
    Moore, Tyler M.
    Cliquet, Freddy
    Leblond, Claire S.
    Rolland, Thomas
    Rosengren, Anders
    Rowitch, David H.
    Hurles, Matthew E.
    Geschwind, Daniel H.
    Borglum, Anders D.
    Robinson, Elise B.
    Grove, Jakob
    Martin, Hilary C.
    Bourgeron, Thomas
    Baron-Cohen, Simon
    NATURE GENETICS, 2022, 54 (09) : 1293 - +
  • [47] Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)
    Rottenberg, GT
    Shaw, DG
    Hall, CM
    JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B, 1997, 6 (01): : 7 - 10
  • [48] Intrafamilial phenotypic and genetic heterogeneity of dystonia
    Kostic, Vladimir S.
    Svetel, Marina
    Kabakci, Kemal
    Ristic, Aleksandar
    Petrovic, Igor
    Schuele, Birgitt
    Kock, Norman
    Djarmati, Ana
    Romac, Stanka
    Klein, Christine
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2006, 250 (1-2) : 92 - 96
  • [49] X-linked spondyloepiphyseal dysplasia tarda: Molecular cause of a heritable platyspondyly
    Fiedler, J
    Frances, AM
    Le Merrer, M
    Richter, M
    Brenner, RE
    SPINE, 2003, 28 (22) : E478 - E482
  • [50] SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
    KAIBARA, N
    TAKAGISHI, K
    KATSUKI, I
    EGUCHI, M
    MASUMI, S
    NISHIO, A
    SKELETAL RADIOLOGY, 1983, 10 (01) : 13 - 16
12345