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A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy
INTRODUCTION: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. CASE REPORT: The proband, a 71-year-old woman referred because of bilateral LC...
Autores principales: | Jaakkola, Aino Maaria, Järventausta, Petri J, Järvinen, Reetta-Stiina, Repo, Pauliina, Kivelä, Tero T, Turunen, Joni A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9294436/ https://www.ncbi.nlm.nih.gov/pubmed/33645289 http://dx.doi.org/10.1177/1120672121997305 |
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