New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders
Abstract YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Nature Portfolio
2017
|
| Subjects: | |
| Online Access: | https://doaj.org/article/a311b793cca04d9788f831add14f8a0f |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!