The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been desc...

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Detalles Bibliográficos
Autores principales: Méjécase, Cécile, Nigam, Chandni, Moosajee, Mariya, Bladen, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998575/
https://www.ncbi.nlm.nih.gov/pubmed/33806295
http://dx.doi.org/10.3390/genes12030364

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998575/
https://www.ncbi.nlm.nih.gov/pubmed/33806295
http://dx.doi.org/10.3390/genes12030364

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