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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...
Autores principales: | Ankleshwaria, Chinmay, Prajapati, Bhavik, Parmar, Sarita, Rathod, Vraj, Patel, Harsh, Dhorajiya, Dixit, Chavda, Nirav, Parmar, Kapil, Pathan, Faiz, Chauhan, Minakshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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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 |
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