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A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is a congenital ciliopathy that has primary and secondary characteristics. Primary clinical features include rod-cone dystrophy, polydactyly, central obesity, genital abnormalities and mental retardation often presenting...

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Detalles Bibliográficos
Autores principales: Mahmood, Syeda Hania, Khan, Maria, Qadar, Laila Tul, Yousuf, Fareeha, Hasan, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823080/
https://www.ncbi.nlm.nih.gov/pubmed/31720185
http://dx.doi.org/10.7759/cureus.5717