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1 article related to "Pyle Disease"

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Articles

Brief Research Report

Published on 23 Oct 2020

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

in Genetics of Common and Rare Diseases

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

Frontiers in Genetics

doi 10.3389/fgene.2020.593407

4,803 views
8 citations