Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant

We report the phenotype of a 15-year-old female patient with anterior segment dysgenesis (ASD) caused by a novel heterozygous loss-of-function FOXC1 variant. The proband underwent an ophthalmic examination as well as a molecular genetic investigation comprising exome sequencing, a single nucleotide...

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Detalles Bibliográficos
Autores principales: Skalicka, Pavlina, Jedlickova, Jana, Horinek, Ales, Trkova, Marie, Davidson, Alice E., Tuft, Stephen J., Dudakova, Lubica, Liskova, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9457150/
https://www.ncbi.nlm.nih.gov/pubmed/36079096
http://dx.doi.org/10.3390/jcm11175166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9457150/
https://www.ncbi.nlm.nih.gov/pubmed/36079096
http://dx.doi.org/10.3390/jcm11175166

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