Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome
Abstract Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859*) and NM_001135243.2:c.4111G>T (p...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-09-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00168-4 |