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
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