The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

This is a publication. If there is no link to the publication on this page, you can try the pre-formated search via the search engines listed on this page.

Authors: Anna Sowińska-Seidler, Paweł Sztromwasser, Katarzyna Zawadzka, Dawid Sielski, Ewelina Bukowska-Olech, Paweł Zawadzki, Kazimierz Kozłowski, Aleksander Jamsheer

Journal title: Frontiers in Genetics

Journal number: 11

Journal publisher: Frontiers Media

Published year: 2020

DOI identifier: 10.3389/fgene.2020.593407

ISSN: 1664-8021