Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

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 h...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217928/
https://www.ncbi.nlm.nih.gov/pubmed/37239474
http://dx.doi.org/10.3390/genes14051113

Ejemplares similares

Ejemplares similares