Associated Papers
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Clark D et al.
American Journal of Medical Genetics. Part A, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy.
Yeh TC et al.
Molecular Genetics and Metabolism Reports, 2022
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