Schneeberger, P E, von Elsner, L, Barker, E L, Meinecke, P, Marquardt, I, Alawi, M, Steindl, K, Joset, P, Rauch, A, Zwijnenburg, P J G, Weiss, M M, Merry, C L R & Kutsche, K 2020, ' Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities ', American journal of human genetics, vol. 107, no. 6, pp. 1044-1061 . https://doi.org/10.1016/j.ajhg.2020.10.007 American Journal of Human Genetics, 107, 6, pp. 1044-61 Am J Hum Genet American journal of human genetics, 107(6), 1044-1061. Cell Press American Journal of Human Genetics, 107, 1044-61