Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. HFS shows some cl...

Descripción completa

Detalles Bibliográficos
Autores principales: Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A., Alhashem, Amal M., Ben-Omran, Tawfeg, Mahmoud, Iman G., Al Menabawy, Nihal M., Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712857/
https://www.ncbi.nlm.nih.gov/pubmed/31455396
http://dx.doi.org/10.1186/s13023-019-1183-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712857/
https://www.ncbi.nlm.nih.gov/pubmed/31455396
http://dx.doi.org/10.1186/s13023-019-1183-5

Ejemplares similares