Article
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Genes - 19 May 2023
Nawaz Hamed, Mujahid, Khan Sher Alam, Bibi Farhana, Waqas Ahmed, Bari Abdul, Fardous, Khan Niamatullah, Muhammad Nazif, Khan Amjad, Paracha Sohail Aziz, Alam Qamre, Kamal Mohammad Azhar, Rafeeq Misbahuddin M, Muhammad Noor, Haq Fayaz Ul, Khan Shazia, Mahmood Arif, Khan Saadullah, Umair Muhammad
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic features include six different hallmarks, such as rod-cone dystrophy, learning difficulties, renal abnormalities, male hypogonadism, post-axial polydactyly, and obesity. Here, we report nine consanguineous families and a...
Topics
- Humans
- Male
- Bardet-Biedl Syndrome
- Codon, Nonsense
- Mutation
- Polydactyly
- Ciliopathies
- Microtubule-Associated Proteins
- Cytoskeletal Proteins
- Phosphate-Binding Proteins