The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals-Reference-Cited by-同舟云学术

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Published:2022-11-15 Issue:12 Volume:43 Page:1872-1881
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Szeri Flora¹²³^ORCID,Miko Agnes⁴⁵,Navasiolava Nastassia⁶,Kaposi Ambrus⁴⁵⁷,Verschuere Shana⁸^ORCID,Molnar Beatrix²,Li Qiaoli¹^ORCID,Terry Sharon F.⁹,Boraldi Federica¹⁰^ORCID,Uitto Jouni¹^ORCID,van de Wetering Koen¹^ORCID,Martin Ludovic⁶,Quaglino Daniela¹⁰¹¹^ORCID,Vanakker Olivier M.⁸^ORCID,Tory Kalman⁴⁵^ORCID,Aranyi Tamas²¹²^ORCID

Affiliation:

1. Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care Thomas Jefferson University Pennsylvania Philadelphia USA

2. Institute of Enzymology Research Centre for Natural Sciences Budapest Hungary

3. Department of Biochemistry Semmelweis University Budapest Hungary

4. MTA‐SE Lendület Nephrogenetic Laboratory Budapest Hungary

5. 1st Department of Pediatrics Semmelweis University Budapest Hungary

6. PXE Consultation Center, MAGEC Nord Reference Center for Rare Skin Diseases Angers University Hospital Angers France

7. Department of Programming Languages and Compilers Eötvös Loránd University Budapest Hungary

8. Center for Medical Genetics Ghent University Hospital Ghent Belgium

9. PXE International District of Columbia Washington USA

10. Department of Life Sciences University of Modena and Reggio Emilia Modena Italy

11. Interuniversity Consortium for Biotechnologies (CIB) Trieste Italy

12. Department of Molecular Biology Semmelweis University Budapest Hungary

Funder