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TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect
BACKGROUND: Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pathogenic genes for about 90% TCS patients, the pathogenic variants of about...
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| Publicado no: | Orphanet J Rare Dis |
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| Principais autores: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6631538/ https://ncbi.nlm.nih.gov/pubmed/31307516 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1136-z |
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