The Genetic and Clinical Features of <i>FOXL2</i>-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 (<i>FOXL2</i>) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subt...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-03-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/12/3/364 |