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Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are in...
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| Publicat a: | BMJ Case Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7845671/ https://ncbi.nlm.nih.gov/pubmed/33509858 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-236325 |
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