P103: Genotype-phenotype correlation of ophthalmic, renal/genitourinary, neurological and neurodevelopmental manifestations in published cases of Bardet-Biedl syndrome*

Genetics in Medicine Open 2026 Open access

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Authors: Mauro Longoni, Patrick M. Abou‐Sleiman, Paul Park, Gian P. Sepulveda, Taylor Sells, Gauri Malthankar
DOI: 10.1016/j.gimo.2026.103597
Cited by: 0

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive, rare, genetically heterogeneous ciliopathy that is diagnosed clinically based on Beales criteria, originally published in 1999. Among clinically diagnosed cases, 80-90% are confirmed by molecular genetic testing of 26 genes with definitive association. Limited genotype-phenotype correlations have been proposed based on sporadic observations or small cohorts.

Fields of Study & Subjects

Genetic and Kidney Cyst Diseases Cystic Fibrosis Research Advances Tuberous Sclerosis Complex Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103597–103597
Publication date
1 January 2026
Language
EN