Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
Abstract Background Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated respiratory tract infection and conduc...
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| Principais autores: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley
2024-03-01
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| Serier: | Molecular Genetics & Genomic Medicine |
| Fag: | |
| Online adgang: | https://doi.org/10.1002/mgg3.2405 |
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