Associated Papers
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.
Haïm D et al.
European Journal of Human Genetics : Ejhg, 2025
Retinal Dystrophy Associated with Homozygous Variants in NRL.
Maggi J et al.
Genes, 2024
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Review: Intraflagellar transport proteins in the retina.
Kannabiran C
Molecular Vision, 2020
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.
Schaefer E et al.
Frontiers in Genetics, 2019
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
Quélin C et al.
American Journal of Medical Genetics. Part A, 2018
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