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Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyct...

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Détails bibliographiques
Publié dans:J Clin Diagn Res
Auteurs principaux: Singh, Mahendra K, Shrinkhal, Pradhan, Sidharth, Chakraborty, Priyanko
Format: Artigo
Langue:Inglês
Publié: JCDR Research and Publications (P) Limited 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5427349/
https://ncbi.nlm.nih.gov/pubmed/28511423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2017/24499.9466
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