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Article

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

American journal of medical genetics. Part A - 1 Sept 2023

Khan Sheraz, Focșa Ina Ofelia, Budișteanu Magdalena, Stoica Cristina, Nedelea Florina, Bohîlțea Laurențiu, Caba Lavinia, Butnariu Lăcrămioara, Pânzaru Monica, Rusu Cristina, Jurcă Claudia, Chirita-Emandi Adela, Bănescu Claudia, Abbas Wasim, Sadeghpour Azita, Baig Shahid Mahmood, Bălgrădean Mihaela, Davis Erica E

Abstract excerpt

Bardet-Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, and hypogonadism. Twenty-eight genes involved in ciliary structure or...

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Identifiers

PMID: 37293956
DOI: 10.1002/ajmg.a.63322
PMCID: PMC10524726

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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