Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene

BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2). The clinical features of HFS include skin thickening with nodules, papules and plaques, gingival enlargement, joint stiffness and contractures...

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Detalles Bibliográficos
Autores principales: Liu, Yiying, Zeng, Xin, Ding, Yi, Xu, Yi, Duan, Dingyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8501544/
https://www.ncbi.nlm.nih.gov/pubmed/34627224
http://dx.doi.org/10.1186/s12903-021-01840-5

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