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
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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