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
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Chiramel MJ et al.
Pediatric Dermatology, 2022
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
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
Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.
Esposito G et al.
The Journal of Investigative Dermatology, 2001
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
Hennies HC et al.
American Journal of Human Genetics, 1998
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