A. Mammen, 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”, KMJ, vol. 14, no. 1, pp. 11-13, Mar. 2021.