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...

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Detalles Bibliográficos
Autores principales: Jaakkola, Aino Maaria, Järventausta, Petri J, Järvinen, Reetta-Stiina, Repo, Pauliina, Kivelä, Tero T, Turunen, Joni A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Reports
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

Internet

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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