Coquille d’oeuf in young patients affected with Pseudoxantoma elasticum
Author:
Affiliation:
1. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy
2. Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1627466
Reference32 articles.
1. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
2. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
3. “Comet” Lesion: An Ocular Sign of Pseudoxanthoma Elasticum
4. An update on the ocular phenotype in patients with pseudoxanthoma elasticum
5. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update
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1. Adaptive Optics Imaging to Analyze the Photoreceptor Layer Reconstitution in Acute Syphilitic Posterior Placoid Chorioretinopathy;Life;2022-08-31
2. Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score;Journal of Clinical Medicine;2021-06-19
3. Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum;American Journal of Ophthalmology;2021-04
4. Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients;Journal of Clinical Medicine;2021-02-01
5. Relationship Between Mitochondrial Structure and Bioenergetics in Pseudoxanthoma elasticum Dermal Fibroblasts;Frontiers in Cell and Developmental Biology;2020-12-17
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