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...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Härter, Bettina, Benedicenti, Francesco, Karall, Daniela, Lausch, Ekkehard, Schweigmann, Gisela, Stanzial, Franco, Superti‐Furga, Andrea, Scholl‐Bürgi, Sabine
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2020
Schlagworte:
Clinical Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7284039/
https://ncbi.nlm.nih.gov/pubmed/32196989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1203
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