Lamellar Ichthyosis
What's New
Last Posted: Apr 16, 2024
- Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.
Andrea Diociaiuti, et al. Dermatology (Basel, Switzerland) 2024 0 - High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".
O F Chacon-Camacho, et al. European journal of medical genetics 2023 0 (10) 104842 - Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
Nicole Macriz-Romero, et al. International ophthalmology 2023 0 - Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Youssefian Leila, et al. Human mutation 2018 0 (3) 288-298 - Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G?>?A mutation in an isolated Ecuadorian population.
Esperón-Moldes U S, et al. Scientific reports 2019 0 (1) 7175 - Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Chiramel Minu Jose, et al. Pediatric dermatology 2022 0 (3) 420-424 - Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene.
Rodríguez-Pazos Laura, et al. International journal of dermatology 2010 0 (11) 1195-7 - Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
Shawky R M, et al. Disease markers 2005 0 (6) 325-32 - Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.
Supsrisunjai Chavalit, et al. Pediatric dermatology 2022 10 - Lamellar ichthyosis
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
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