Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

PURPOSE: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosi...

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Detalles Bibliográficos
Autores principales: Macriz-Romero, Nicole, Vera-Duarte, Guillermo Raul, Guerrero-Becerril, Jesus, Chacón-Camacho, Oscar Francisco, Astiazarán, Mirena C, Zenteno, Juan Carlos, Graue-Hernandez, Enrique O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504104/
https://www.ncbi.nlm.nih.gov/pubmed/37542530
http://dx.doi.org/10.1007/s10792-023-02774-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504104/
https://www.ncbi.nlm.nih.gov/pubmed/37542530
http://dx.doi.org/10.1007/s10792-023-02774-3

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