Anikiej-Wiczenbach P, Mański A, Milska-Musa K, Limanówka M, Wierzba J, Jamsheer A, Cyske Z, Gaffke L, Pierzynowska K, Węgrzyn G. Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene. Journal of Applied Genetics. 2022 May 08;63(3):535–42. doi: 10.1007/s13353-022-00702-2.