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Bardet–Biedl Syndrome Presenting in Adulthood

Bardet–Biedl syndrome (BBS) is a rare disorder with a frequency of 1:1,60,000. The disease is inherited in an autosomal recessive manner. Less than 15 cases have been reported from India. We present a case of Bardet–Biedl syndrome presenting to the medical emergency with acute breathlessness because...

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Detalles Bibliográficos
Autores principales: Ankleshwaria, Chinmay, Prajapati, Bhavik, Parmar, Sarita, Rathod, Vraj, Patel, Harsh, Dhorajiya, Dixit, Chavda, Nirav, Parmar, Kapil, Pathan, Faiz, Chauhan, Minakshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872935/
https://www.ncbi.nlm.nih.gov/pubmed/36704599
http://dx.doi.org/10.4103/ijn.ijn_320_21