Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Cited by 248 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Pseudoxanthoma elasticum – Genetics, pathophysiology, and clinical presentation;Progress in Retinal and Eye Research;2024-09
2. Anti-VEGF Treatment for Secondary Neovascularization in Pseudoxanthoma Elasticum - Age of Onset, Treatment Frequency, and Visual Outcome;American Journal of Ophthalmology;2024-09
3. Bone Marrow–Derived ABCC6 Is an Essential Regulator of Ectopic Calcification In Pseudoxanthoma Elasticum;Journal of Investigative Dermatology;2024-08
4. Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome;Molecular Genetics and Genomics;2024-04-16
5. Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort;European Journal of Ophthalmology;2024-04-11
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