Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome

BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS. CAS...

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Detalles Bibliográficos
Autores principales: Belkadi, Aziz, Thareja, Gaurav, Khan, Adnan, Stephan, Nisha, Zaghlool, Shaza, Halama, Anna, Ahmed, Ayeda Abdulsalam, Mohamoud, Yasmin A., Malek, Joel, Suhre, Karsten, Malik, Rayaz A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666305/
https://www.ncbi.nlm.nih.gov/pubmed/37996899
http://dx.doi.org/10.1186/s12920-023-01739-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666305/
https://www.ncbi.nlm.nih.gov/pubmed/37996899
http://dx.doi.org/10.1186/s12920-023-01739-w

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