Associated Papers
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Hordyjewska-Kowalczyk E et al.
Clinical Genetics, 2024
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
Select a paper to view details