Gingival enlargement is one of the frequent features of gingival diseases. However due to
their varied presentations, the diagnosis of these entities becomes challenging for the …

Gingival fibromatosis is a rare and heterogeneous group of disorders that develop as slowly
progressive, local or diffuse enlargements within marginal and attached gingiva or …

Capillary morphogenesis gene 2 (CMG2) is a type I membrane protein involved in the
homeostasis of the extracellular matrix. While it shares interesting similarities with integrins …

Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis
and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the …

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare,
autosomal recessive disorders of the connective tissue caused by mutations in the gene …

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in
rare and undiagnosed diseases | Genetics in Medicine Skip to main content Thank you for …

Abstract Hyaline Fibromatosis Syndrome (HFS) is a human genetic disease caused by
mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane …

Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited
disorder. The classical natural history of the disease is characterised by hypotonia, multiple …

Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder characterized
by the deposition of hyaline material in the skin, soft tissues, and bones. In this report, we …

Objectives To establish whether two families from Malopolska and Mazovia provinces in
Poland are affected by hereditary gingival fibromatosis type 1, caused by a single‐cytosine …