Article

Case Report: Managing Bardet-Biedl syndrome at a tertiary care centre

2023-01-23

Abstract excerpt

Bardet-Biedl syndrome (BBS), a rare ciliopathy, is a genetic disease with autosomal recessive inheritance which presents with multiple organ system involvement. It usually presents with renal dysfunction, dystrophy of rods and cones, obesity, hypogonadism, post-axial polydactyly, learning difficulties and other minor features. The treatment of this condition is primarily symptomatic and involves a multidisciplinar...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cc7d02d8-df5a-5c9f-9716-280c9c282f13
DOI: 10.12688/f1000research.128449.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Case Report: Managing Bardet-Biedl syndrome at a tertiary care centreDOI 10.12688/f1000research.128449.1Read

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can DoSemantic proximity Read

Bardet-Biedl syndrome: A rare case report from North IndiaSemantic proximity Read

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.Semantic proximity Read

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.Semantic proximity Read

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsSemantic proximity Read

Bardet-Biedl syndrome: A rare genetic diseaseSemantic proximity Read

Bardet-biedl Syndrome With Ttc8 Mutation in a Kenyan Adolescent: A Case Report From a Rural Public HospitalSemantic proximity Read

Bardet-Biedl syndrome.Semantic proximity Read

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.Semantic proximity Read

Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).Semantic proximity Read

Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.Semantic proximity Read

Bardet–Biedl syndrome: a case seriesSemantic proximity Read