Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects
Serge Bonnefoy, Christopher Mark Watson, Kristin D. Kernohan, Moara Lemos, Sebastian Hutchinson, James A. Poulter, Laura A. Crinnion, Ian R Berry, Jennifer Simmonds, Pradeep C. Vasudevan, Christopher O’Callaghan, Robert Anthony Hirst, Andrew Rutman, Lijia Huang, Taila Hartley, , Eamonn G. Sheridan
The paper identifies biallelic LRRC56 mutations causing ciliary dysfunction and laterality defects in two families, linking LRRC56 to intraflagellar transport and dynein arm assembly.
The American Journal of Human Genetics · Nov 1, 2018Peer-reviewedGenetics