Mutations in the X-linked dominant type (CDPX2) of chondrodysplasia punctata.

被引:0
|
作者
Chavez, SE
Kelley, RI
Kratz, LE
Metzenberg, AB
机构
[1] Calif State Univ Northridge, Northridge, CA 91330 USA
[2] Kennedy Krieger Inst, Baltimore, MD 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
2259
引用
收藏
页码:555 / 555
页数:1
相关论文
共 50 条
  • [21] ULTRASTRUCTURAL FEATURES OF THE ICHTHYOTIC SKIN IN X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA
    KOLDE, G
    HAPPLE, R
    JOURNAL OF CUTANEOUS PATHOLOGY, 1983, 10 (05) : 394 - 395
  • [22] LETHAL COURSE OF X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA IN A MALE NEWBORN
    DERAEVE, L
    SONG, M
    DEDOBBELEER, G
    SPEHL, M
    VANREGEMORTER, N
    DERMATOLOGICA, 1989, 178 (03): : 167 - 170
  • [23] Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata
    Whittock, NV
    Izatt, L
    Simpson-Dent, SL
    Becker, K
    Wakelin, SH
    PRENATAL DIAGNOSIS, 2003, 23 (09) : 701 - 704
  • [24] X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings
    Umranikar, Shalini
    Glanc, Phyllis
    Unger, Sheila
    Keating, Sarah
    Fong, Katherine
    Trevors, Christopher D.
    Myles-Reid, Diane
    Chitayat, David
    PRENATAL DIAGNOSIS, 2006, 26 (13) : 1235 - 1240
  • [26] CONRADI-HUNERMANN-HAPPLE SYNDROME, X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA 2
    Walter, S.
    Wierenga, K.
    Collinge, J.
    Chaaban, H.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2018, 66 (02) : 506 - 506
  • [27] Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation
    Guannan He
    Yan Yin
    Jing Zhao
    Xueyan Wang
    Jiaxiang Yang
    Xi Chen
    Li Ding
    Yan Bai
    BMC Pediatrics, 19
  • [28] 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
  • [29] 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
  • [30] X Linked Dominant Chondrodysplasia Punctata-2 (CDPX2): Novel Mutation c.541delC (p.His181Thrfs 12) in the EBP Gene
    Gil, Julian
    Gallo, Camilo
    Mendoza, Victor
    Franco, Luis
    Vargas, Clara
    Garcia, Gustavo
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 26 - 26