Associated Papers
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Almazroea A et al.
Medicina (kaunas, Lithuania), 2023
36676727 (PubMed )
Supplement: medicina-59-00103-s001.zip › medicina-2007344-supplementary.xlsx › Reported_Variants_in_TGM1_Gene
High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.
González-Del Carmen M et al.
International Journal of Dermatology, 2020
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
28248968 (PubMed )
Supplement: pone.0172189.s003.pdf
Acral self-healing collodion baby: A case series.
Ferrari B et al.
International Journal of Women's Dermatology, 2016
Inherited ichthyosis: Non-syndromic forms.
Takeichi T et al.
The Journal of Dermatology, 2016
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.
Mazereeuw-Hautier J et al.
The British Journal of Dermatology, 2009
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML et al.
Human Mutation, 2009
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