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

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[41] Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis [J].

Feng, C. ;

Wang, H. ;

Lee, M. ;

Zhao, J. ;

Lin, Z. ;

Yang, Y. .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2017, 42 (01) :98-100

[42] Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis [J].

Diociaiuti, A. ;

Pisaneschi, E. ;

Zambruno, G. ;

Angioni, A. ;

Novelli, A. ;

Boldrini, R. ;

El Hachem, M. .

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2018, 32 (03) :E110-E112

[43] Novel Compound Heterozygous Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis [J].

Kirchmeier, P. ;

Oji, V. ;

Schlipf, N. ;

Hodler, C. ;

Zeschnigk, C. ;

Fischer, J. .

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2014, 12 :21-22

[44] Diagnosis of Autosomal Recessive Lamellar Ichthyosis with mutations in the TGM1 gene. [J].

Cserhalmi-Friedman, PB ;

Milstone, LM ;

Christiano, AM .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :386-386

[45] A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient [J].

Vaigundan, D. ;

Kalmankar, Neha V. ;

Krishnappa, J. ;

Gowda, N. Yellappa ;

Kutty, A. V. M. ;

Krishnaswamy, Patnam R. .

BIOMED RESEARCH INTERNATIONAL, 2014, 2014

[46] Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis [J].

Serra, Gregorio ;

Memo, Luigi ;

Cavicchioli, Paola ;

Cutrone, Mario ;

Giuffre, Mario ;

La Torre, Maria Laura ;

Schierz, Ingrid Anne Mandy ;

Corsello, Giovanni .

ITALIAN JOURNAL OF PEDIATRICS, 2022, 48 (01)

[47] A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs [J].

Casal, Margret L. ;

Wang, Ping ;

Mauldin, Elizabeth A. ;

Lin, Gloria ;

Henthorn, Paula S. .

PLOS ONE, 2017, 12 (01)

[48] Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype [J].

Avrahami, L. ;

Maas, S. ;

Pasmanik-Chor, M. ;

Rainshtein, L. ;

Magal, N. ;

Smitt, J. H. S. ;

van Marle, J. ;

Shohat, M. ;

Basel-Vanagaite, L. .

CLINICAL GENETICS, 2008, 74 (01) :47-53

[49] Genotype/phenotype correlation in epidermolytic hyperkeratosis and autosomal recessive ichthyosis [J].

DiGiovanna, JJ .

DERMATOLOGY AT THE MILLENNIUM, 1999, :643-643

[50] Transglutaminase-1 Gene Mutations in Autosomal Recessive Congenital Ichthyosis: Summary of Mutations (Including 23 Novel) and Modeling of TGase-1 [J].

Herman, Matthew L. ;

Farasat, Sharifeh ;

Steinbach, Peter J. ;

Wei, Ming-Hui ;

Toure, Ousmane ;

Fleckman, Philip ;

Blake, Patrick ;

Bale, Sherri J. ;

Toro, Jorge R. .

HUMAN MUTATION, 2009, 30 (04) :537-547

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