ArticleMolecular vision2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Article in Molecular vision, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 31 citations in OpenAlex.
- Article
- A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.Genetics and molecular biology · 2026Article
- Rare Case of Laurence-Moon-Bardet-Biedl Syndrome With Pulmonary Hypertension: A Case Report.Clinical case reports · 2025Article
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.Molecular biology reports · 2023Article
- Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Genes · 2023Article
- Article
- Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.Frontiers in genetics · 2023Article
- Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.Journal of clinical laboratory analysis · 2022Article
- Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO).Frontiers in genetics · 2022Article
- Novel Compound HeterozygousJournal of ophthalmology · 2021Article
- Deletion in the Bardet-Biedl Syndrome GeneGenes · 2020Article
- Structure of the human BBSome core complex.eLife · 2020Article
- Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report.BMC medical genetics · 2019Article
- Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.Molecular genetics & genomic medicine · 2019Article
- A novel compound heterozygous mutation inHuman genome variation · 2019Article
- Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.Molecular vision · 2018Article
- Identification of a Novel Homozygous Mutation inAvicenna journal of medical biotechnologyArticle
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin.
methodsLinkage in two families (A and B) was established to
resultsSanger sequencing revealed two novel mutations and three previously reported mutations in the
conclusionsTwo novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating
Indexed as
Identifiers
28761321PMC5524433W2736841439What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.