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 homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
Chatron N et al.
Clinical Genetics, 2017
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