Associated Papers
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
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V et al.
Journal of Medical Genetics, 2023
Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.
Hartill V et al.
Frontiers in Pediatrics, 2017
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
Szymanska K et al.
Journal of Pediatric Genetics, 2014
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Szymanska K et al.
Cilia, 2012
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R et al.
Human Mutation, 2007
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