Life Sciences → Biochemistry, Genetics and Molecular Biology → Genetics
Dermatological and Skeletal Disorders
This cluster of papers focuses on genetic disorders such as Pseudoxanthoma Elasticum, Arterial Calcification, and Osteopoikilosis, caused by mutations in genes like ABCC6, ENPP1, and TGF-ß1. These mutations lead to ectopic mineralization and connective tissue abnormalities, contributing to the understanding of genetic heterogeneity and clinical manifestations of these diseases.
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Pseudoxanthoma ElasticumArterial CalcificationABCC6 MutationsENPP1 MutationsTGF-ß1 MutationsEctopic MineralizationConnective Tissue MineralizationGenetic HeterogeneityOsteopoikilosisCamurati-Engelmann Disease
