Literature DB >> 25766764

Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.

Sanae Numata1, Kwesi Teye1, Rafal P Krol1, Tadashi Karashima1, Shunpei Fukuda1, Mitsuhiro Matsuda1, Norito Ishii1, Minao Furumura1, Chika Ohata1, Sasi D Saminathan2, Roziana Ariffin2, Zacharias A D Pramono3, Kin Fon Leong4, Takahiro Hamada1, Takashi Hashimoto5.   

Abstract

Entities:  

Keywords:  Autosomal recessive congenital ichthyosis; Malaysia; Mutation analysis

Mesh：

Substances：

Year:  2015        PMID： 25766764     DOI： 10.1016/j.jdermsci.2015.02.006

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  3 in total

1.  Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report.

Authors:  Jing Zeng; Baihui Shan; Lu Guo; Sha Lv; Fuqiu Li
Journal:  Pharmgenomics Pers Med       Date:  2022-06-07

2.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

3.  Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Authors:  Lei Zhang; Yanqiu Hu; Jingjing Lu; Peiwei Zhao; Xiankai Zhang; Li Tan; Jun Li; Cuiping Xiao; Linkong Zeng; Xuelian He
Journal:  Front Genet       Date:  2022-08-08       Impact factor: 4.772
  3 in total

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