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

Author:

Szeri Flora123ORCID,Miko Agnes45,Navasiolava Nastassia6,Kaposi Ambrus457,Verschuere Shana8ORCID,Molnar Beatrix2,Li Qiaoli1ORCID,Terry Sharon F.9,Boraldi Federica10ORCID,Uitto Jouni1ORCID,van de Wetering Koen1ORCID,Martin Ludovic6,Quaglino Daniela1011ORCID,Vanakker Olivier M.8ORCID,Tory Kalman45ORCID,Aranyi Tamas212ORCID

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

Universiteit Gent

Bolyai Foundation

European Cooperation in Science and Technology

Fulbright Association

Nemzeti Kutatási Fejlesztési és Innovációs Hivatal

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

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