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...

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Detalles Bibliográficos
Autores principales: Sowińska-Seidler, Anna, Sztromwasser, Paweł, Zawadzka, Katarzyna, Sielski, Dawid, Bukowska-Olech, Ewelina, Zawadzki, Paweł, Kozłowski, Kazimierz, Jamsheer, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
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

Internet

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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