Associated Papers
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.
Sowińska-Seidler A et al.
Frontiers in Genetics, 2020
A novel sequence variant in SFRP4 causing Pyle disease.
Galada C et al.
Journal of Human Genetics, 2017
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