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Bardet Biedel Syndrome: A Very Rare Entity in India
Bardet Biedel Syndrome (BBS) is a rare autosomal recessive disease which is characterized by obesity, retinitis pigmentosa, polydactyly, neuro-developmental retardation and renal defects amongst others. It is a genetically heterogeneous ciliopathic disorder with inter and intra familial variations....
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
JCDR Research and Publications (P) Limited
2013
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3809665/ https://ncbi.nlm.nih.gov/pubmed/24179926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2013/5684.3388 |
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