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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Xehetasun bibliografikoak
Argitaratua izan da:BMJ Case Rep
Egile Nagusiak: Kaur, Parminder, Chaudhry, Chakshu, Neelam, Harsha, Panigrahi, Inusha
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2021
Gaiak:
Case Report
Sarrera elektronikoa: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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