Title: The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
Authors: Anna Sowińska-Seidler, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer
Journal: Frontiers in Genetics
Publication type: article
DOI: 10.3389/fgene.2020.593407