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The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
BACKGROUND: Pyle disease is a rare autosomal recessive bone dysplasia characterized by the broadening of metaphyses with generalized cortical thinning. Homozygous truncating mutations in secreted frizzled-related protein 4 (SFRP4) were, to date, the only known variants causative for this type of ske...
Autores principales: | Sowińska-Seidler, Anna, Sztromwasser, Paweł, Zawadzka, Katarzyna, Sielski, Dawid, Bukowska-Olech, Ewelina, Zawadzki, Paweł, Kozłowski, Kazimierz, Jamsheer, Aleksander |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7646522/ https://www.ncbi.nlm.nih.gov/pubmed/33193738 http://dx.doi.org/10.3389/fgene.2020.593407 |
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