Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B.P. van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap

Source: Molecular Genetics and Metabolism Reports - November 19, 2020 Category: Genetics & Stem Cells Source Type: research