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注意:仅列出部分参考文献,下载原文获取全部文献信息。Reassessment of causality ofABCC6missense variants associated with pseudoxanthoma elasticum based on Sherloc
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Oral administration of pyrophosphate inhibits connective tissue calcification
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Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum
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Ocular manifestations of genetic skin disorders
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CLINICS IN DERMATOLOGY (2016)
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The Genetics of Soft Connective Tissue Disorders
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Tomographic fundus features in pseudoxanthoma elasticum: comparison with neovascular age-related macular degeneration in Japanese patients
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
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Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
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