Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum is a genetic disorder caued by mutations in the ATP-binding cassette sub-family C member 6 gene (ABCC6) and is characterized by lax skin and retinal hemorrhages. Discover the latest research on pseudoxanthoma elasticum here.

July 1, 2020

Diagnosing Calciphylaxis: A Review With Emphasis on Histopathology

The American Journal of Dermatopathology
Eman BahraniJeffrey P North
October 21, 2020
Open Access

The effect of etidronate on choroidal neovascular activity in patients with pseudoxanthoma elasticum

PloS One
Sara RisseeuwJeannette Ossewaarde-van Norel
August 29, 2020
Open Access

A Reflectivity Measure to Quantify Bruch's Membrane Calcification in Patients with Pseudoxanthoma Elasticum Using Optical Coherence Tomography

Translational Vision Science & Technology
Sara RisseeuwJeannette Ossewaarde-van Norel
November 13, 2020

Keratoconus Detection using OCT Corneal and Epithelial Thickness Map Parameters and Patterns

Journal of Cataract and Refractive Surgery
Yuli YangYan Li
July 6, 2020
Open Access

Goosebumps and angioid streaks in a patient with cerebrovascular disease

European Journal of Internal Medicine
Laia Bou-BoludaFernando Millán-Parrilla
January 2, 2021
Open Access

Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis

International Journal of Molecular Sciences
Jianjian SunTao P Zhong
November 30, 2020
Open Access

The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

MedRxiv : the Preprint Server for Health Sciences
F. SzeriTamas Aranyi
October 20, 2020

Non-exudative macular neovascularization in pseudoxanthoma elasticum

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie
João Pedro MarquesRufino Silva
December 5, 2020
Open Access

Osteoarthritis in Pseudoxanthoma Elasticum Patients: An Explorative Imaging Study

Journal of Clinical Medicine
Willem Paul GielisAnnemarie M den Harder
July 1, 2020


Richard F Spaide, Gerardo Ledesma-Gil
July 1, 2020

Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia

Archivos de la Sociedad Española de Oftalmología
L Hernández BelE Cervera Taulet
May 28, 2020

Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report

Journal of Thrombosis and Thrombolysis
Silvia LanfranconiNereo Bresolin
December 29, 2020
Case Report

Multiple Cerebrovascular Insults in Pseudoxanthoma Elasticum.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
N Abimbola Sunmonu
November 8, 2020
Open Access

Creation of the first monoclonal antibody recognizing an extracellular epitope of hABCC6

FEBS Letters
E KozákA Váradi
January 23, 2021

Polypoidal choroidal vasculopathy in a patient with angioid streaks treated by bevacizumab.

La Tunisie médicale
Ahmed ChebilLeila El Matri
September 3, 2020

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Shana VerschuereOlivier M Vanakker
August 30, 2020
Open Access

Increased Elastin Degradation in Pseudoxanthoma Elasticum Is Associated with Peripheral Arterial Disease Independent of Calcification

Journal of Clinical Medicine
Jonas W BartstraPim A de Jong
July 16, 2020

Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient

Ophthalmic Genetics
Kevin WangElias I Traboulsi

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