Phenotype diversity in autosomal recessive congenital ichthyosis associated with mutations in the ST14 gene

被引:0
|
作者
Below, J. [1 ]
Kuesel, J. [2 ]
Hotz, A. [2 ]
Fischer, J. [2 ]
Frank, J. [1 ]
机构
[1] Heinrich Heine Univ Dusseldorf, Dept Dermatol, D-40225 Dusseldorf, Germany
[2] Univ Med Ctr Freiburg, Inst Human Genet, D-79106 Freiburg, Germany
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
P109
引用
收藏
页码:E46 / E47
页数:2
相关论文
共 50 条
  • [21] Identification of a novel causative gene responsible for autosomal recessive congenital ichthyosis
    Shigehara, Y.
    Okuda, S.
    Hayashi, R.
    Nakai, H.
    Abe, R.
    Kibbi, A. Ghani
    Kurban, M.
    Shimomura, Y.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (05) : S85 - S85
  • [22] Nail involvement in autosomal recessive congenital ichthyosis
    Zaouak, Anissa
    Chamli, Amal
    Ben Mansour, Nadia
    Jouini, Wafa
    Fenniche, Samy
    Hammami, Houda
    CLINICS IN DERMATOLOGY, 2022, 40 (04) : 388 - 394
  • [23] Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population
    Laiho, E
    Ignatius, J
    Mikkola, H
    Yee, VC
    Teller, DC
    Niemi, KM
    SaarialhoKere, U
    Kere, J
    Palotie, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) : 529 - 538
  • [24] Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
    Chulpanova, Daria S.
    Shaimardanova, Alisa A.
    Ponomarev, Aleksei S.
    Elsheikh, Somaia
    Rizvanov, Albert A.
    Solovyeva, Valeriya V.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (05)
  • [25] CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations
    Ates, Esra Arslan
    Onay, Huseyin
    Ertam, Ilgen
    Ataman, Esra
    Hazan, Filiz
    Durmaz, Asude
    Dereli, Tugrul
    Ozkinay, Ferda
    TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY, 2020, 14 (04): : 90 - 94
  • [26] Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis
    Zhang, San-Quan
    Li, Chang-Xing
    Gao, Xin-Qian
    Qiu, Wen-Yuan
    Chen, Quan
    Li, Xue-Mei
    Zhou, Xin
    Tian, Xin
    Tang, Zhi-Ping
    Zhao, Tian
    Zhang, Fang
    Zhang, Xi-Bao
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2016, 55 (02) : 201 - 207
  • [27] Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis
    Numata, Sanae
    Teye, Kwesi
    Karashima, Tadashi
    Matsuda, Mitsuhiro
    Hamada, Takahiro
    Hashimoto, Takashi
    EXPERIMENTAL DERMATOLOGY, 2016, 25 (08) : 657 - 659
  • [28] Topical In Situ Gene Therapy for the Treatment of Autosomal Recessive Congenital Ichthyosis Patients
    Bolsoni, J.
    Liu, D.
    Mohabatpour, F.
    Apaydin, D. C.
    Sadhnani, G. G.
    Leung, J.
    Jan, E.
    Kulkarni, J. A.
    Cullis, P.
    Hedtrich, S.
    HUMAN GENE THERAPY, 2024, 35 (3-4) : A284 - A284
  • [29] Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
    Hennies, HC
    Küster, W
    Wiebe, V
    Krebsová, A
    Reis, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) : 1052 - 1061
  • [30] Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene
    Cserhalmi-Friedman, PB
    Milstone, LM
    Christiano, AM
    BRITISH JOURNAL OF DERMATOLOGY, 2001, 144 (04) : 726 - 730