A novel K17 mutation in a patient with pachyonychia congenita type 2 (PC-2).

被引：0
|
作者：
Smith, SK
Nogita, T
Hashimoto, T
Bowden, PE
机构：
[1] Univ Wales Coll Med, Dept Dermatol, Cardiff CF4 4XN, S Glam, Wales
[2] Tokyo Womens Med Coll, Dept Dermatol, Tokyo 162, Japan
[3] Kurume Univ, Dept Dermatol, Kurume, Fukuoka 830, Japan
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1998年 / 110卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：618 / 618
页数：1
相关论文
共 50 条
  • [21] Keratin 17 mutation cause both pachyonychia congenita type 2 and early onset sebaceous cysts
    Liu Ping
    Lu Ning
    Su Hui
    Li Lin-li
    Song Jian-wen
    Yang Rong-li
    JOURNAL OF DERMATOLOGY, 2012, 39 : 199 - 199
  • [22] Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity
    Oh, Se-Woong
    Kim, Moon Young
    Lee, Jeong Sun
    Kim, Soo-Chan
    JOURNAL OF DERMATOLOGY, 2006, 33 (03): : 161 - 164
  • [23] Pachyonychia Congenita Type 2: An Unusual Presentation
    Lo Schiavo, Ada
    Caccavale, Stefano
    Alfano, Rossella
    Romano, Francesca
    Ruocco, Eleonora
    AMERICAN JOURNAL OF DERMATOPATHOLOGY, 2013, 35 (05) : 619 - 620
  • [24] A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2
    Xiao, SX
    Feng, YG
    Ren, XR
    Tan, SS
    Li, L
    Wang, JM
    Shi, YZ
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (04) : 892 - 895
  • [25] Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2
    Ghazawi, Feras M.
    Hassani-Ardakani, Kimya
    Henriques, Lisa
    Jafarian, Fatemeh
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2019, 58 (02) : 233 - 236
  • [26] Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene
    Cammarata-Scalisi, F.
    Natsuga, K.
    Toyonaga, E.
    Nishie, W.
    Shimizu, H.
    Avendano, A.
    Araque, D.
    Da Silva, G.
    Bellacchio, E.
    Callea, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2017, 31 (02) : E94 - E96
  • [27] Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
    Covello, SP
    Smith, FJD
    Smitt, JHS
    Paller, AS
    Munro, CS
    Jonkman, MF
    Uitto, J
    McLean, WHI
    BRITISH JOURNAL OF DERMATOLOGY, 1998, 139 (03) : 475 - 480
  • [28] Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view
    Cogulu, Ozgur
    Onay, Huseyin
    Aykut, Ayca
    Wilson, Neil J.
    Smith, Frances J. D.
    Dereli, Tugrul
    Ozkinay, Ferda
    EUROPEAN JOURNAL OF PEDIATRICS, 2009, 168 (10) : 1269 - 1272
  • [29] Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view
    Ozgur Cogulu
    Huseyin Onay
    Ayca Aykut
    Neil J. Wilson
    Frances J. D. Smith
    Tugrul Dereli
    Ferda Ozkinay
    European Journal of Pediatrics, 2009, 168 : 1269 - 1272
  • [30] Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
    Covello, SP
    Smith, FJD
    Coleman, CS
    Smitt, JHS
    Paller, AS
    Tenconi, R
    Munro, CS
    Uitto, J
    McLean, WHI
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (04) : 614 - 614
12345