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Pseudoxanthoma Elasticum

Pseudoxanthoma Elasticum diagram by Public Domain, Wikimedia
Public Domain, Wikimedia

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.

Top 20 most recent papers
Indian Journal of Dermatology

Pompholyx-Like Eruptions Induced by Penicillamine in a Patient with Wilson's Disease

Indian Journal of DermatologySeptember 14, 2019
Diana Elizabeth DevassyHarshad Devarbhai
The British Journal of Ophthalmology

Retinal findings in carriers of monoallelic ABCC6 mutations

The British Journal of OphthalmologyMarch 30, 2019
Martin GliemPeter Charbel Issa
International Journal of Molecular Sciences

The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders

International Journal of Molecular SciencesMay 6, 2019
Lukas NolletOlivier Vanakker
Human Genetics

Ethnogeographic and inter-individual variability of human ABC transporters

Human GeneticsMarch 25, 2020
Qingyang XiaoVolker M Lauschke
Current Osteoporosis Reports

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management

Current Osteoporosis ReportsMarch 17, 2020
Alison M BoyceCarlos R Ferreira
JAMA Ophthalmology

Acute Retinopathy in Pseudoxanthoma Elasticum

JAMA OphthalmologyAugust 9, 2019
Martin GliemPeter Charbel Issa
The Australasian Journal of Dermatology

Two cases of periumbilical perforating pseudoxanthoma elasticum with dermoscopic and histopathologic features

The Australasian Journal of DermatologyJanuary 21, 2020
Tejas VishwanathKavita Ingle
Clinical and Experimental Dermatology

Pseudoxanthoma elasticum presenting without typical skin changes

Clinical and Experimental DermatologyMarch 27, 2020
N StembridgeN P Burrows
Frontiers in Medicine

Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum : Novel Biomolecular Findings

Frontiers in MedicineFebruary 11, 2020
Federica BoraldiDaniela Quaglino
Annals of Translational Medicine

Plasma inorganic pyrophosphate and alkaline phosphatase in patients with pseudoxanthoma elasticum

Annals of Translational MedicineFebruary 12, 2020
Ana María Sánchez-TévarPedro Valdivielso
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie

Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle OphthalmologieDecember 22, 2019
Martin GliemPeter Charbel Issa

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