Laddar...
Bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical m...
Sparad:
| Huvudupphovsmän: | , |
|---|---|
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Nature Publishing Group
2013
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3522196/ https://ncbi.nlm.nih.gov/pubmed/22713813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.115 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|