Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We identified FOXE3 variants in individuals with conge...

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Detalles Bibliográficos
Autores principales: Reis, Linda M, Sorokina, Elena A, Dudakova, Lubica, Moravikova, Jana, Skalicka, Pavlina, Malinka, Frantisek, Seese, Sarah E, Thompson, Samuel, Bardakjian, Tanya, Capasso, Jenina, Allen, William, Glaser, Tom, Levin, Alex V, Schneider, Adele, Khan, Ayesha, Liskova, Petra, Semina, Elena V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369840/
https://www.ncbi.nlm.nih.gov/pubmed/34046667
http://dx.doi.org/10.1093/hmg/ddab142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369840/
https://www.ncbi.nlm.nih.gov/pubmed/34046667
http://dx.doi.org/10.1093/hmg/ddab142

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