Associated Papers
Bathing suit ichthyosis: a case report of a 13-year-old boy with unique clinical features and genetic insights from Syria.
Jazmati A et al.
Annals of Medicine and Surgery (2012), 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1
Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing.
Mezzi N et al.
Gene, 2024
The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.
Aguilar-Mahecha A et al.
Genes, 2023
38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Suppl_Table_S2
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
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.
Benmously-Mlika R et al.
International Journal of Dermatology, 2014
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
More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.
Small K et al.
Lymphatic Research and Biology, 2008
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