A CASE OF TREACHER COLLINS SYNDROME
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a hetero...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Sciendo
2013-12-01
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| Col·lecció: | Balkan Journal of Medical Genetics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.2478/bjmg-2013-0036 |
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