Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation-Reference-Cited by-同舟云学术

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

Published:2020-03-20 Issue:6 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Härter Bettina¹^ORCID,Benedicenti Francesco²,Karall Daniela³,Lausch Ekkehard⁴,Schweigmann Gisela⁵,Stanzial Franco²,Superti‐Furga Andrea⁶,Scholl‐Bürgi Sabine³

Affiliation:

1. Division of Pediatric Surgery Department of Visceral, Transplant and Thoracic Surgery Center of Operative Medicine Innsbruck Medical University Innsbruck Austria

2. Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases Department of Pediatrics Regional Hospital of Bolzano Bolzano Italy

3. Department of Pediatrics I Innsbruck Medical University Innsbruck Austria

4. Pediatric Genetics Section Department of Pediatrics University of Freiburg Freiburg Germany

5. Department of Radiology Innsbruck Medical University Innsbruck Austria

6. Division of Genetic Medicine Lausanne University Hospital University of Lausanne Lausanne Switzerland

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1203

Reference15 articles.

1. CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome