Genetic testing for Bardet-Biedl syndrome
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in 160 000, and is caused by mutations in the AR...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sciendo
2017-10-01
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| coleção: | The EuroBiotech Journal |
| Acesso em linha: | https://doi.org/10.24190/ISSN2564-615X/2017/S1.04 |
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