ArticleFrontiers in genetics2021
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 28 citations in OpenAlex.
- Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.European journal of human genetics : EJHG · 2025Article
- Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.Biochemical genetics · 2025Article
- New functions of B9D2 in tight junctions and epithelial polarity.Scientific reports · 2024Article
- Oligogenic basis of premature ovarian insufficiency: an observational study.Journal of ovarian research · 2024Observational
- Faster and more accurate pathogenic combination predictions with VarCoPP2.0.BMC bioinformatics · 2023Article
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.Frontiers in genetics · 2023Article
- Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.Frontiers in genetics · 2023Article
- New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.International journal of molecular sciences · 2022Review
- Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.Database : the journal of biological databases and curation · 2022Article
- Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.Journal of personalized medicine · 2022Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Juvenile-onset diabetes may occur in the context of a rare syndromic presentation, suggesting a monogenic etiology rather than a common multifactorial diabetes. In the present study, we report the case of a young diabetic Tunisian patient presenting learning problems, speech deficits, short stature, brachydactyly, and a normal weight. Whole exome sequencing analysis revealed five heterozygous genetic variants in
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