Bardet-Biedl syndrome in a female due to a novel compound heterozygous mutations in BBS10 gene: One case report and literature review / 中华内分泌代谢杂志

ABSTRACT

Bardet-Biedl syndrome (BBS) is a rare and highly heterogeneous autosomal recessive disease caused by ciliary structure abnormality or dysfunction. Here we report a case of a 23-year-old woman who was diagnosed with BBS with a rare BBS10 gene mutation. Literature review was performed with a focus to outline treatment and management plans for patients with this rare and potentially dangerous disease.