Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations

被引:0
|
作者
Niu, Xuping [1 ]
Li, Xinhua [1 ]
Han, Qixin [1 ]
Hou, Ruixia [1 ]
Zhang, Kaiming [1 ]
机构
[1] Shanxi Med Univ, Inst Dermatol, Shanxi Key Lab Stem Cells Immunol Dermatosis, Taiyuan Cent Hosp, Taiyuan, Shanxi, Peoples R China
关键词
AUTOAMPUTATION;
D O I
10.1111/ijd.16812
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:E639 / E641
页数:3
相关论文
共 50 条
  • [1] Mutations in ABCA12 underlie harlequin ichthyosis
    Kelsell, DP
    Norgett, E
    Unsworth, H
    Teh, M
    Cullop, T
    Dale, B
    Leigh, IM
    Eady, RA
    OToole, EA
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (04) : A75 - A75
  • [2] Novel ABCA12 mutations in harlequin ichthyosis and a review of clinical outcomes
    Rajpopat, S.
    O'Toole, E.
    Kelsell, D.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 163 : 119 - 119
  • [3] The role in harlequin ichthyosis of mutations in lipid transporter ABCA12
    Dereure, O
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2006, 133 (01): : 97 - 97
  • [4] ABCA12 is the major harlequin ichthyosis gene
    Thomas, Anna C.
    Cullup, Tom
    Norgett, Elizabeth E.
    Hill, Tara
    Barton, Stephanie
    Dale, Beverly A.
    Sprecher, Eli
    Sheridan, Eamonn
    Taylor, Aileen E.
    Wilroy, Robert S.
    DeLozier, Celia
    Burrows, Nigel
    Goodyear, Helen
    Fleckman, Philip
    Stephens, Karen G.
    Mehta, Lakshmi
    Watson, Rosemarie M.
    Graham, Robert
    Wolf, Roni
    Slavotinek, Anne
    Martin, Madelena
    Bourn, David
    Mein, Charles A.
    O'Toole, Edel A.
    Kelsell, David P.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 (11) : 2408 - 2413
  • [5] Elucidating the role of ABCA12 in harlequin ichthyosis
    Tattersall, D.
    Thomas, A. C.
    O'Toole, E. A.
    Kelsell, D. P.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (04) : 890 - 890
  • [6] Novel and recurring ABCA12 mutations associated with harlequin ichthyosis:: implications for prenatal diagnosis
    Thomas, A. C.
    Sinclair, C.
    Mahmud, N.
    Cullup, T.
    Mellerio, J. E.
    Harper, J.
    Dale, B. A.
    Turc-Carel, C.
    Hohl, D.
    McGrath, J. A.
    Vahlquist, A.
    Hellstrom-Pigg, M.
    Ganemo, A.
    Metcalfe, K.
    Mein, C. A.
    O'Toole, E. A.
    Kelsell, D. P.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (03) : 611 - 613
  • [7] A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
    Rajpar, SF
    Cullup, T
    Kelsell, DP
    Moss, C
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (01) : 204 - 206
  • [8] Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis in harlequin ichthyosis
    Takeichi, T.
    Sugiura, K.
    Kono, M.
    Akiyama, M.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 : S122 - S122
  • [9] Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
    Aggarwal, Shagun
    Kar, Anjana
    Bland, Philip
    Kelsell, David
    Dalal, Ashwin
    GENE, 2015, 556 (02) : 254 - 256
  • [10] Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis
    Akiyama, Masashi
    Sakai, Kaori
    Sato, Toshihiro
    McMillan, James R.
    Goto, Maki
    Sawamura, Daisuke
    Shimizu, Hiroshi
    DERMATOLOGY, 2007, 215 (02) : 155 - 159