Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Ashraf T et al.
American Journal of Medical Genetics. Part A, 2020
Review: Intraflagellar transport proteins in the retina.
Kannabiran C
Molecular Vision, 2020
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Perrault I et al.
Journal of Medical Genetics, 2015
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