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

来源：

EXPERIMENTAL DERMATOLOGY | 2017年 / 26卷 / 03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：

P109

引用

页码：E46 / E47

页数：2

共 50 条

[21] Identification of a novel causative gene responsible for autosomal recessive congenital ichthyosis [J].

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 [J].

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 [J].

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 [J].

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 [J].

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 [J].

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 [J].

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 [J].

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 [J].

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 [J].

Cserhalmi-Friedman, PB ;

Milstone, LM ;

Christiano, AM .

BRITISH JOURNAL OF DERMATOLOGY, 2001, 144 (04) :726-730

← 1 2 3 4 5 →