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Bardet-Biedl Syndrome

Laurence-Moon syndromeLaurence-Moon-Bardet-Biedl 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 9 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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9 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 150 free, full-text research articles. First few results:
Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.
Last Updated: Jan 06, 2020

Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous ciliopathy with several clinical features including retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioral dysfunction and hypogonadism with wide spectrum of additional features. ...

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. ...

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Last Updated: Jan 03, 2020

Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often crucial for the definition ...

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150 Free Research Articles 335 Research Articles