Associated Papers
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family.
Fang Q et al.
Journal of Human Genetics, 2025
Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome.
Dauleh H et al.
Jcem Case Reports, 2025
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.
Clark AM et al.
Jci Insight, 2024
37971880 (PubMed )
Supplement: jciinsight-9-162621-s010.pdf
Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.
Belkadi A et al.
Bmc Medical Genomics, 2023
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.
Zhong J et al.
Eye (london, England), 2023
A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India.
Goyal S et al.
Bmc Ophthalmology, 2023
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
Rahner N et al.
Ophthalmic Genetics, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E et al.
Human Molecular Genetics, 2016
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z et al.
Molecular Vision, 2015
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