FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family

Multiple synostoses syndrome (OMIM: #186500, #610017, #612961, #617898) is a genetically heterogeneous group of autosomal dominant diseases characterized by abnormal bone unions. The joint fusions frequently involve the hands, feet, elbows or vertebrae. Pathogenic variants in FGF9 have been associat...

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Detalles Bibliográficos
Autores principales: Schmetz, Ariane, Schaper, Jörg, Thelen, Simon, Rana, Majeed, Klenzner, Thomas, Schaumann, Katharina, Beygo, Jasmin, Surowy, Harald, Lüdecke, Hermann-Josef, Wieczorek, Dagmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048304/
https://www.ncbi.nlm.nih.gov/pubmed/36980996
http://dx.doi.org/10.3390/genes14030724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048304/
https://www.ncbi.nlm.nih.gov/pubmed/36980996
http://dx.doi.org/10.3390/genes14030724

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