Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature-Reference-Cited by-同舟云学术

Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature

Published:2014-08-22 Issue:1 Volume:40 Page:56-62
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Liu J.-J.¹,Yuan Y.-Y.¹,Zhang X.-Q.¹,Li Z.-M.¹,Xu Y.-S.¹,Gao S.-M.¹,Cai J.-F.¹,Shao X.-H.¹,Lin X.-H.¹,Li B.-X.¹

Affiliation:

1. First Affiliated Hospital of Wenzhou Medical University; Wenzhou Zhejiang China

Funder

the National Natural Science Foundation of China

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12410/fullpdf

Reference25 articles.

1. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009;Oji;J Am Acad Dermatol,2010

2. Autosomal recessive congenital ichthyosis;Fischer;J Invest Dermatol,2009

3. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma;Akiyama;Br J Dermatol,2001

4. Heterogeneity in autosomal recessive ichthyosis: clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma;Williams;Arch Derm,1985

5. Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis;Tok;Exp Dermatol,1999

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis;International Journal of Women’s Dermatology;2024-08-21

2. A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability;European Journal of Dermatology;2023-08

3. Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma;Annals of Dermatology;2023

4. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation;BMC Medical Genomics;2022-01-05

5. Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos;Molecular Therapy;2022-01