Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.

Clinical endocrinology - 1 Aug 2026

Thiriveedi Deepak, Goroshi Manjunath, Ganakumar Vanishri, Ghatnatti Vikrant

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with multisystem involvement. While BBS1 mutations are common globally, population-specific genetic patterns and phenotype severity vary. This study aimed to investigate genotype-phenotype correlations in an Indian cohort. METHODS: In this single-centre, observational cohort study, individuals meeting Beales' clinical criteria for...

Topics

Join the communities discussing this publication.

Bardet-Biedl Syndrome
Chaperonins
Cohort Studies
Cytoskeletal Proteins
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microtubule-Associated Proteins

Source

Identifiers

PMID: 41766136
DOI: 10.1111/cen.70117

Genes

BBS10
BBS2
BBS1
BBS12
BBS9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.PMID 41766136Read ↗

Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.Semantic proximity Read ↗

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Semantic proximity Read ↗

Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.Semantic proximity Read ↗

Molecular and Phenotypic Characteristics of Bardet-Biedl Syndrome in Chinese PatientsSemantic proximity Read ↗

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.Semantic proximity Read ↗

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.Semantic proximity Read ↗

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

Bardet-Biedl syndrome: A rare genetic diseaseSemantic proximity Read ↗

Kidney failure in Bardet-Biedl syndrome.Semantic proximity Read ↗

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Semantic proximity Read ↗

Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.