Genetic & Genomic MedicinemedRxivPreprint
Biallelic Variants in CCN2 Underlie an Autosomal Recessive Kyphomelic Dysplasia
Swati Singh, Sumita Danda, Neetu Sharma…·Katta M. Girisha
This study identifies biallelic CCN2 variants as the cause of autosomal recessive kyphomelic dysplasia through clinical, genetic, and zebrafish model analyses.