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Article

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

BMC medical genomics - 26 Mar 2021

Suárez-González Julia, Seidel Verónica, Andrés-Zayas Cristina, Izquierdo Elvira, Buño Ismael

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on a novel pathogenic variant in a consanguineous Pakistani family with an affected child. CASE PRESENTATION: Clinical exome sequencing was used to search for BBS causing variants in the affected...

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Identifiers

PMID: 33771153
DOI: 10.1186/s12920-021-00943-w
PMCID: PMC7995718

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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