Mammen, A., P. Binukuttan, R. Varghese, and S. Sasidharan. “P.Arg142Ter Variant Causing IFT52 Gene Mutation Resulting in Asphyxiating Thoracic Dystrophy-Juene Syndrome-A Rare Case Report”. Kerala Medical Journal, Vol. 14, no. 1, Mar. 2021, pp. 11-13, doi:10.52314/kmj.2021.v14i1.600.