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Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies

Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to …

Enchondromatosis

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)NCT06749366