16/06/2021
Molecular variants of Bardet-Biedl Syndrome
Bardet-Biedl Syndrome (BBS) is a genetically and clinically heterogeneous disorder clinically characterized by obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism and kidney structural abnormalities or functional impairment.
See more: https://academicjournals.org/journal/JCBG/article-abstract/3834F5B822