Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

Abstract 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, a...

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Bibliographic Details
Main Authors: Bettina Härter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ANTXR2
CMG2
Hyaline Fibromatosis Syndrome
infantile systemic hyalinosis
juvenile hyaline fibromatosis
Online Access:https://doi.org/10.1002/mgg3.1203

Internet

https://doi.org/10.1002/mgg3.1203

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