A carregar...
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...
Na minha lista:
| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7646522/ https://ncbi.nlm.nih.gov/pubmed/33193738 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.593407 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|