Article
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Molecular genetics & genomic medicine - 1 Jun 2020
Härter Bettina, Benedicenti Francesco, Karall Daniela, Lausch Ekkehard, Schweigmann Gisela, Stanzial Franco, Superti-Furga Andrea, Scholl-Bürgi Sabine
Abstract excerpt
BACKGROUND: Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesions, gingival hyperplasia, joint and bone disease, and systemic involvement. METHODS: Based on the case of an 11-year-old female patient with typical features of hyaline...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.