Cargando…
Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or osteochondromas, that locate most commonly in the juxta-e...
Autores principales: | Bukowska-Olech, Ewelina, Trzebiatowska, Wiktoria, Czech, Wiktor, Drzymała, Olga, Frąk, Piotr, Klarowski, Franciszek, Kłusek, Piotr, Szwajkowska, Anna, Jamsheer, Aleksander |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8704583/ https://www.ncbi.nlm.nih.gov/pubmed/34956317 http://dx.doi.org/10.3389/fgene.2021.759129 |
Ejemplares similares
-
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses
por: Jamsheer, Aleksander, et al.
Publicado: (2014) -
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
por: Sowińska-Seidler, Anna, et al.
Publicado: (2020) -
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
por: Bukowska-Olech, Ewelina, et al.
Publicado: (2020) -
Spinal Screening MRI Trends in Patients with Multiple Hereditary Exostoses: National Survey
por: Montgomery, Blake K, et al.
Publicado: (2019) -
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
por: Bukowska-Olech, Ewelina, et al.
Publicado: (2020)