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

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 syste...

Descripción completa

Detalles Bibliográficos
Autores principales: Härter, Bettina, Benedicenti, Francesco, Karall, Daniela, Lausch, Ekkehard, Schweigmann, Gisela, Stanzial, Franco, Superti‐Furga, Andrea, Scholl‐Bürgi, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284039/
https://www.ncbi.nlm.nih.gov/pubmed/32196989
http://dx.doi.org/10.1002/mgg3.1203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284039/
https://www.ncbi.nlm.nih.gov/pubmed/32196989
http://dx.doi.org/10.1002/mgg3.1203

Ejemplares similares