Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Autor: Federica, Boraldi, Vittoria, Murro, Francesco Demetrio, Lofaro, Dario Pasquale, Mucciolo, Sonia, Costa, Laura, Pavese, Daniela, Quaglino

Publikováno v: Journal of Clinical Medicine, Vol 10, Iss 2710, p 2710 (2021)
Journal of Clinical Medicine
Volume 10
Issue 12

Background: Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification genetic disease mainly caused by ABCC6 rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular manifesta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::aab60d2bb5e2721e7233f50ba05c6db6
https://www.mdpi.com/2077-0383/10/12/2710

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Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Autor: Valérie Boccio, Jean-Michael Mazzella, Annabelle Venisse, Karine Auribault, Boris Keren, Michael Frank, Wafa Samkari, Xavier Jeunemaitre, Anne Legrand, Laurence Cornez, Dominique P. Germain, Karelle Benistan, Juliette Albuisson

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
Genetics in Medicine, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩

International audience; Purpose: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764bf321c5fa28391122a94476456dd4
https://hal.archives-ouvertes.fr/hal-01879799