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

• Main Authors: Yiying Liu (Author), Xin Zeng (Author), Yi Ding (Author), Yi Xu (Author), Dingyu Duan (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 cont...