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Bardet-Biedl Syndrome

Laurence-Moon-Bardet-Biedl syndromeLaurence-Moon syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Bardet-Biedl Syndrome" returned 8 free, full-text review articles. First few results:
Ciliopathy: Bardet-Biedl Syndrome.
Last Updated: Jul 23, 2019

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, ...

Toward personalized medicine in Bardet-Biedl syndrome.
Last Updated: Nov 05, 2018

Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet-Biedl syndrome. Advances in the understanding of ciliary biology and diagnostic ...

Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome.
Last Updated: Aug 29, 2018

Bardet Biedl syndrome (BBS) is a rare inherited syndromic condition characterized by renal and extra-renal disorders. Renal defect, at either structural or functional level, is one of the cardinal clinical features, and is a major cause of morbidity. However, the pathogenic mechanism ...

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8 Free Review Articles 35 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Bardet-Biedl Syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Bardet-Biedl Syndrome" returned 149 free, full-text research articles. First few results:
Oral and dental findings in Bardet-Biedl syndrome: A case report.
Last Updated: Oct 15, 2019

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. This syndrome is associated with 19 genes present, and 80% of the cases are determined as a clinical diagnosis result. A 15-year-old female presented with a complaint of gingival bleeding during brushing. ...

Acute myocardial infarction and haemodynamic stroke in a young patient with Bardet-Biedl syndrome.
Last Updated: Nov 22, 2019

A 28-year-old man diagnosed with diabetes mellitus and systemic hypertension presented with a medical history of sudden onset retrosternal discomfort followed by loss of consciousness and generalised tonic clonic seizures. Examination revealed obesity, polysyndactyly and retinal pigment ...

Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report.
Last Updated: Aug 02, 2019

Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism and renal abnormalities. Bifid epiglottis and anterior laryngeal web are rare congenital anomalies and are often ...

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149 Free Research Articles 331 Research Articles