Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome
Truncating variants in specific exons of Fibrosin-like protein 1 (FBRSL1) were recently reported to cause a novel malformation and intellectual disability syndrome. The clinical spectrum includes microcephaly, facial dysmorphism, cleft palate, skin creases, skeletal anomalies and contractures, postn...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Frontiers Media S.A.
2021
|
| Subjects: | |
| Online Access: | https://doaj.org/article/bf5a218efda245e2b6a5e11276f151a4 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!