Jul 2026
Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.
BACKGROUND Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder with multi-systemic symptoms, including polydactyly, obesity, renal anomalies, retinal dystrophy, and cognitive impairment. Our study reported a previously unreported BBS5 homozygous variant in a Chinese patient with BBS from paterna...
Jinyu Liu, Tao Huang, Min Zhang et al.
· Ophthalmic Genetics · 0 citations