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...
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| Main Authors: | , , , |
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| Format: | article |
| Language: | EN |
| Published: |
Frontiers Media S.A.
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/bf5a218efda245e2b6a5e11276f151a4 |
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