RADIOLOGICAL CASE OF THE MONTH - DOMINANT X-LINKED CHONDRODYSPLASIA PUNCTATA

被引:2
|
作者
KOZLOWSKI, K
BATES, EH
YOUNG, LW
WOOD, BP
机构
[1] RANDWICK MED CTR,DEPT RADIOL,SYDNEY,AUSTRALIA
[2] ROYAL ALEXANDRA HOSP CHILDREN,SYDNEY,AUSTRALIA
来源
关键词
D O I
10.1001/archpedi.1988.02150110111032
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1233 / 1234
页数:2
相关论文
共 50 条
  • [41] X-LINKED CHONDRODYSPLASIA PUNCTATA WITH ICHTHYOSIS - CHROMOSOMAL LOCALIZATION TO XP
    CURRY, CJR
    LANMAN, JT
    MAGENIS, RE
    BROWN, MG
    BERGNER, EA
    SHAPIRO, LJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1982, 34 (06) : A122 - A122
  • [42] BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA - A POSSIBLE X-LINKED RECESSIVE FORM
    MAROTEAUX, P
    HUMAN GENETICS, 1989, 82 (02) : 167 - 170
  • [43] HOMOLOGOUS GENES FOR X-LINKED CHONDRODYSPLASIA PUNCTATA IN MAN AND MOUSE
    HAPPLE, R
    PHILLIPS, RJS
    ROESSNER, A
    JUNEMANN, G
    HUMAN GENETICS, 1983, 63 (01) : 24 - 27
  • [44] A NOVEL ARYLSULFATASE RESPONSIBLE FOR X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA
    PETIT, C
    M S-MEDECINE SCIENCES, 1995, 11 (10): : 1492 - 1494
  • [45] CHONDRODYSPLASIA PUNCTATA - CONRADI-HUNERMANN FORM - RADIOLOGICAL CASE OF THE MONTH
    YOUNG, LW
    KING, TD
    DUNN, D
    FAYGENBAUM, D
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1979, 133 (11): : 1191 - 1193
  • [46] X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male
    Aughton, DJ
    Kelley, RI
    Metzenberg, A
    Pureza, V
    Pauli, RM
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 116A (03): : 255 - 260
  • [47] Novel pathogenic variant inEBPgene is associated to X-linked dominant chondrodysplasia punctata in a female fetus.
    Laco, M. N.
    Branco, M.
    Joosten, M.
    DeKoninck, P.
    Galhano, E.
    Ramos, F.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 843 - 843
  • [48] Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
    Derry, JMJ
    Gormally, E
    Means, GD
    Zhao, W
    Meindl, A
    Kelley, RI
    Boyd, Y
    Herman, GE
    NATURE GENETICS, 1999, 22 (03) : 286 - 290
  • [49] Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
    Jonathan M.J. Derry
    Emmanuelle Gormally
    Gary D. Means
    Wei Zhao
    Alfons Meindl
    Richard I. Kelley
    Yvonne Boyd
    Gail E. Herman
    Nature Genetics, 1999, 22 : 286 - 290
  • [50] Guess what!: Diagnosis:: X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome)
    Krisp, A
    König, A
    Hoffmann, R
    Happle, R
    EUROPEAN JOURNAL OF DERMATOLOGY, 2001, 11 (04) : 389 - 391