Exome sequencing and bioinformatic approaches reveals rare sequence variants involved in cell signalling and elastic fibre homeostasis: new evidence in the development of ectopic calcification
Author:
Funder
PXE Italia Onlus and C&F Donation
Publisher
Elsevier BV
Subject
Cell Biology
Reference89 articles.
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4. Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia;Baccarani-Contri;J. Am. Acad. Dermatol.,2001
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1. Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases;International Journal of Molecular Sciences;2022-12-04
2. A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases;Diagnostics;2021-09-29
3. From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report;Frontiers in Medicine;2021-08-26
4. Systemic sclerosis skin is a primed microenvironment for soft tissue calcification—a hypothesis;Rheumatology;2021-02-15
5. Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients;Journal of Clinical Medicine;2021-02-01
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